R30H (p.Arg30His) variant of GNAQ (P50148)
R30H (p.Arg30His) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R30H (p.Arg30His) variant details
- p.Arg30His
- Ensembl rs2118632251
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.57
- MetaLR 0.60
- MetaSVM 0.20
- CADD 24.70
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available