V30A (p.Val30Ala) variant of FMR1 (Q06787)
V30A (p.Val30Ala) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V30A (p.Val30Ala) variant details
- p.Val30Ala
- gnomAD X-147921970-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.47
- CADD 26.20
- PolyPhen-2 0.83
- SIFT 0.02
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.5
- Literature evidence available