I40V (p.Ile40Val) variant of FSHR (P23945)
I40V (p.Ile40Val) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
I40V (p.Ile40Val) variant details
- p.Ile40Val
- TOPMed rs969910938
- gnomAD rs969910938
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.14
- MetaLR 0.66
- MetaSVM -0.10
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available