V53L (p.Val53Leu) variant of FMR1 (Q06787)
V53L (p.Val53Leu) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V53L (p.Val53Leu) variant details
- p.Val53Leu
- ExAC rs782602321
- TOPMed rs782602321
- gnomAD rs782602321
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.05
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Latino/Admixed American population (allele frequency 9.5e-05)
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score 0.0023