D35G (p.Asp35Gly) variant of GNAQ (P50148)
D35G (p.Asp35Gly) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D35G (p.Asp35Gly) variant details
- p.Asp35Gly
- Ensembl rs1824053410
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.45
- MetaLR 0.70
- MetaSVM 0.28
- CADD 23.70
- PolyPhen-2 0.41
- SIFT 0.01
- Population evidence available
- Structural context available