G10V (p.Gly10Val) variant of FMR1 (Q06787)
G10V (p.Gly10Val) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G10V (p.Gly10Val) variant details
- p.Gly10Val
- cosmic curated COSV10587
- gnomAD rs1557174013
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.36
- CADD 26.10
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.541