D23E (p.Asp23Glu) variant of GNAQ (P50148)
D23E (p.Asp23Glu) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D23E (p.Asp23Glu) variant details
- p.Asp23Glu
- Ensembl rs1012464653
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.23
- MetaLR 0.43
- MetaSVM -0.65
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available