A88S (p.Ala88Ser) variant of FSHR (P23945)
A88S (p.Ala88Ser) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A88S (p.Ala88Ser) variant details
- p.Ala88Ser
- TOPMed rs1226901298
- gnomAD rs1226901298
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.35
- MetaLR 0.53
- MetaSVM -0.11
- CADD 21.30
- PolyPhen-2 0.07
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available