R37H (p.Arg37His) variant of GNAQ (P50148)
R37H (p.Arg37His) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R37H (p.Arg37His) variant details
- p.Arg37His
- Ensembl rs2118632175
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.53
- MetaLR 0.66
- MetaSVM 0.32
- CADD 23.20
- PolyPhen-2 0.18
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available