From: Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH
Variants Predictors | Leu527Phe | Arg947Pro |
---|---|---|
PredictSNP (Accuracy) | Deleterious (51%) | Neutral (63%) |
PhD-SNP (Confidence scpre) | Deleterious (61%) | Deleterious (73%) |
PolyPhen-2 (Confidence scpre) | Deleterious (40%) | Neutral (71%) |
SIFT (Confidence scpre) | Deleterious (53%) | Deleterious (43%) |
SNAP (Confidence scpre) | Neutral (83%) | Neutral (50%) |