H109Q (p.His109Gln) variant of GNAQ (P50148)
H109Q (p.His109Gln) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H109Q (p.His109Gln) variant details
- p.His109Gln
- TOPMed rs1827002659
- gnomAD rs1827002659
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.30
- MetaLR 0.47
- MetaSVM -0.30
- CADD 20.30
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available