V6M (p.Val6Met) variant of FMR1 (Q06787)
V6M (p.Val6Met) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V6M (p.Val6Met) variant details
- p.Val6Met
- gnomAD X-147912195-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.29
- CADD 26.50
- PolyPhen-2 0.72
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.199
- Literature evidence available