V5V (p.Val5Val) variant of FMR1 (Q06787)
V5V (p.Val5Val) in FMR1 (Q06787) is a synonymous 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.
V5V (p.Val5Val) variant details
- p.Val5Val
- gnomAD X-147912194-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 15.90
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.394
- Literature evidence available