E26K (p.Glu26Lys) variant of GNA11 (P29992)
E26K (p.Glu26Lys) in GNA11 (P29992) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- rs2512078232
- ClinGen CA403299731
- ClinVar RCV003677674
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.80
- CADD 26.20
- PolyPhen-2 0.90
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available