R148Q (p.Arg148Gln) variant of GNAQ (P50148)
R148Q (p.Arg148Gln) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R148Q (p.Arg148Gln) variant details
- p.Arg148Gln
- Ensembl rs2118510504
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.72
- MetaLR 0.83
- MetaSVM 0.75
- CADD 25.40
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available