K33E (p.Lys33Glu) variant of GNA11 (P29992)
K33E (p.Lys33Glu) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
K33E (p.Lys33Glu) variant details
- p.Lys33Glu
- gnomAD 19-3094748-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.64
- CADD 25.50
- PolyPhen-2 0.48
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available