A31E (p.Ala31Glu) variant of FMR1 (Q06787)
A31E (p.Ala31Glu) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A31E (p.Ala31Glu) variant details
- p.Ala31Glu
- gnomAD X-147921973-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.12
- CADD 24.40
- PolyPhen-2 0.47
- SIFT 0.03
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.37
- Literature evidence available