I102V (p.Ile102Val) variant of FSHR (P23945)
I102V (p.Ile102Val) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I102V (p.Ile102Val) variant details
- p.Ile102Val
- ExAC rs775769692
- gnomAD rs775769692
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.26
- MetaLR 0.35
- MetaSVM -0.41
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available