V5L (p.Val5Leu) variant of FMR1 (Q06787)
V5L (p.Val5Leu) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- ExAC rs781928912
- gnomAD rs781928912
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.15
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the South Asian population (allele frequency 4e-05)
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.394