G13V (p.Gly13Val) variant of FMR1 (Q06787)
G13V (p.Gly13Val) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- gnomAD X-147912759-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 9.81
- Most common in the East Asian population (allele frequency 5.7e-05)
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.188
- Literature evidence available