From: Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients
Gene | Variant | Amino acid change | Variant effect | Associated disease | MAF | pLI | missense Z-score | GERP +  +  | CADD |
---|---|---|---|---|---|---|---|---|---|
BRAF | NM_004333.5:c.362C>A | p.Thr121Lys | Missense | RASopathies | 0 | 1 | 3.72 | 5.56 | 22.7 |
FRAS1 | NM_025074.6:c.7004T>G | p.Leu2335Arg | Missense | Fraser syndrome 1 | 0 | 0 | 0.08 | 5.49 | 14.28 |
ELF4 | NM_001421.3:c.1185G>A | p.Val395 =  | Synonymous |  | 0 | 0.06 | 1.17 | 3.7 | 13.02 |
MESP2 | NM_001039958.1:c.829G>A | p.Gly277Ser | Missense | Spondylocostal dysostosis 2 | 0 | 0 | 0.19 | -1.34 | 0.003 |