E76D (p.Glu76Asp) variant of FSHR (P23945)
E76D (p.Glu76Asp) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E76D (p.Glu76Asp) variant details
- p.Glu76Asp
- ExAC rs768583889
- gnomAD rs768583889
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.58
- MetaLR 0.56
- MetaSVM -0.02
- CADD 22.30
- PolyPhen-2 0.77
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available