A88V (p.Ala88Val) variant of FSHR (P23945)
A88V (p.Ala88Val) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A88V (p.Ala88Val) variant details
- p.Ala88Val
- cosmic curated COSV10043
- ESP rs145775250
- TOPMed rs145775250
- gnomAD rs145775250
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.48
- MetaLR 0.60
- MetaSVM 0.24
- CADD 26.20
- PolyPhen-2 0.33
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available