H109R (p.His109Arg) variant of GNAQ (P50148)
H109R (p.His109Arg) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
H109R (p.His109Arg) variant details
- p.His109Arg
- ExAC rs761095319
- TOPMed rs761095319
- gnomAD rs761095319
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.31
- MetaLR 0.47
- MetaSVM -0.33
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available