E14G (p.Glu14Gly) variant of GNAQ (P50148)
E14G (p.Glu14Gly) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E14G (p.Glu14Gly) variant details
- p.Glu14Gly
- Ensembl rs2118632451
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.50
- MetaLR 0.62
- MetaSVM 0.13
- CADD 25.60
- PolyPhen-2 0.42
- SIFT 0.00
- Population evidence available
- Structural context available