H105R (p.His105Arg) variant of GNAQ (P50148)
H105R (p.His105Arg) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
H105R (p.His105Arg) variant details
- p.His105Arg
- TOPMed rs1829007919
- gnomAD rs1829007919
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.27
- MetaLR 0.32
- MetaSVM -0.57
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available