K33R (p.Lys33Arg) variant of GNA11 (P29992)
K33R (p.Lys33Arg) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K33R (p.Lys33Arg) variant details
- p.Lys33Arg
- gnomAD 19-3094749-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.34
- CADD 22.90
- PolyPhen-2 0.25
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available