V5A (p.Val5Ala) variant of FMR1 (Q06787)
V5A (p.Val5Ala) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- gnomAD X-147912193-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.14
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.394
- Literature evidence available