V6V (p.Val6Val) variant of FMR1 (Q06787)
V6V (p.Val6Val) in FMR1 (Q06787) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V6V (p.Val6Val) variant details
- p.Val6Val
- rs111485627
- gnomAD X-147912197-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 14.10
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.199
- Literature evidence available