R34Q (p.Arg34Gln) variant of GNAQ (P50148)
R34Q (p.Arg34Gln) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- Ensembl rs1824053452
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.36
- MetaLR 0.52
- MetaSVM -0.25
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.02
- Population evidence available
- Structural context available