V20A (p.Val20Ala) variant of FMR1 (Q06787)
V20A (p.Val20Ala) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- gnomAD X-147921940-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.40
- CADD 25.90
- PolyPhen-2 0.89
- SIFT 0.01
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.098
- Literature evidence available