E26K (p.Glu26Lys) variant of GNAQ (P50148)
E26K (p.Glu26Lys) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- Ensembl rs2118632300
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.66
- MetaLR 0.68
- MetaSVM 0.32
- CADD 23.30
- PolyPhen-2 0.05
- SIFT 0.02
- Population evidence available
- Structural context available