A65V (p.Ala65Val) variant of FSHR (P23945)
A65V (p.Ala65Val) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A65V (p.Ala65Val) variant details
- p.Ala65Val
- ExAC rs747839893
- gnomAD rs747839893
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.70
- MetaLR 0.63
- MetaSVM 0.30
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available