A31G (p.Ala31Gly) variant of FMR1 (Q06787)
A31G (p.Ala31Gly) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A31G (p.Ala31Gly) variant details
- p.Ala31Gly
- gnomAD X-147921973-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.08
- CADD 23.20
- PolyPhen-2 0.13
- SIFT 0.01
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.37
- Literature evidence available