G13D (p.Gly13Asp) variant of FMR1 (Q06787)
G13D (p.Gly13Asp) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- gnomAD X-147912217-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.56
- CADD 24.30
- PolyPhen-2 0.28
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.188
- Literature evidence available