K41R (p.Lys41Arg) variant of GNA11 (P29992)
K41R (p.Lys41Arg) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
K41R (p.Lys41Arg) variant details
- p.Lys41Arg
- gnomAD 19-3094773-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.77
- CADD 29.90
- PolyPhen-2 0.68
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available