K33M (p.Lys33Met) variant of GNA11 (P29992)
K33M (p.Lys33Met) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
K33M (p.Lys33Met) variant details
- p.Lys33Met
- gnomAD 19-3094749-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.83
- CADD 28.30
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available