Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients

Table 3 Detailed information of the candidate variants

Gene	Variant	Amino acid change	Variant effect	Associated disease	pLI	missense Z-score	GERP + +	CADD
BRAF	NM_004333.5:c.362C>A	p.Thr121Lys	Missense	RASopathies	1	3.72	5.56	22.7
FRAS1	NM_025074.6:c.7004T>G	p.Leu2335Arg	Missense	Fraser syndrome 1	0	0.08	5.49	14.28
ELF4	NM_001421.3:c.1185G>A	p.Val395 =	Synonymous		0.06	1.17	3.7	13.02
MESP2	NM_001039958.1:c.829G>A	p.Gly277Ser	Missense	Spondylocostal dysostosis 2	0	0.19	-1.34	0.003

MAF: minor allele frequency, the maximal populational allele frequency of the variant obtained from 1000 genome database, gnomAD, and an in-house database; pLI, missense Z-score: obtained from the gnomAD database

ISSN: 1750-1172