A48V (p.Ala48Val) variant of FSHR (P23945)
A48V (p.Ala48Val) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- cosmic curated COSV58636
- ExAC rs761927857
- gnomAD rs761927857
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.22
- MetaLR 0.34
- MetaSVM -0.45
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available