E76A (p.Glu76Ala) variant of FSHR (P23945)
E76A (p.Glu76Ala) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
E76A (p.Glu76Ala) variant details
- p.Glu76Ala
- ExAC rs779111613
- gnomAD rs779111613
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.75
- MetaLR 0.74
- MetaSVM 0.53
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.15
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available