E33K (p.Glu33Lys) variant of FMR1 (Q06787)
E33K (p.Glu33Lys) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- gnomAD X-147921978-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.56
- CADD 29.70
- PolyPhen-2 0.52
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.588
- Literature evidence available