R114Q (p.Arg114Gln) variant of GNAQ (P50148)
R114Q (p.Arg114Gln) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R114Q (p.Arg114Gln) variant details
- p.Arg114Gln
- TOPMed rs1010141343
- gnomAD rs1010141343
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.34
- MetaLR 0.57
- MetaSVM -0.25
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available