V6L (p.Val6Leu) variant of FMR1 (Q06787)
V6L (p.Val6Leu) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V6L (p.Val6Leu) variant details
- p.Val6Leu
- gnomAD X-147912195-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.35
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.199
- Literature evidence available