V30V (p.Val30Val) variant of FMR1 (Q06787)
V30V (p.Val30Val) in FMR1 (Q06787) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V30V (p.Val30Val) variant details
- p.Val30Val
- gnomAD X-147921971-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.192
- CADD 8.92
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.5
- Literature evidence available