V6A (p.Val6Ala) variant of FMR1 (Q06787)
V6A (p.Val6Ala) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- gnomAD rs1557173998
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.34
- CADD 26.20
- PolyPhen-2 0.55
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.199