E24K (p.Glu24Lys) variant of GNA11 (P29992)
E24K (p.Glu24Lys) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- gnomAD 19-3094721-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.63
- CADD 26.00
- PolyPhen-2 0.96
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available