R114G (p.Arg114Gly) variant of GNAQ (P50148)
R114G (p.Arg114Gly) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R114G (p.Arg114Gly) variant details
- p.Arg114Gly
- ExAC rs759080789
- TOPMed rs759080789
- gnomAD rs759080789
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.52
- MetaLR 0.61
- MetaSVM -0.02
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available