V23A (p.Val23Ala) variant of FMR1 (Q06787)
V23A (p.Val23Ala) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V23A (p.Val23Ala) variant details
- p.Val23Ala
- gnomAD X-147921949-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.42
- CADD 26.50
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.264
- Literature evidence available