Q62H (p.Gln62His) variant of FSHR (P23945)
Q62H (p.Gln62His) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Q62H (p.Gln62His) variant details
- p.Gln62His
- ExAC rs771701919
- gnomAD rs771701919
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.27
- MetaLR 0.18
- MetaSVM -0.91
- CADD 17.70
- PolyPhen-2 0.25
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available