G10D (p.Gly10Asp) variant of FMR1 (Q06787)
G10D (p.Gly10Asp) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G10D (p.Gly10Asp) variant details
- p.Gly10Asp
- gnomAD X-147912208-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.33
- CADD 26.00
- PolyPhen-2 0.82
- SIFT 0.04
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.541
- Literature evidence available