A31V (p.Ala31Val) variant of FMR1 (Q06787)
A31V (p.Ala31Val) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- gnomAD X-147921973-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.12
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.37
- Literature evidence available