K41E (p.Lys41Glu) variant of GNA11 (P29992)
K41E (p.Lys41Glu) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
K41E (p.Lys41Glu) variant details
- p.Lys41Glu
- gnomAD 19-3094772-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.85
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available