A108V (p.Ala108Val) variant of GNAQ (P50148)
A108V (p.Ala108Val) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A108V (p.Ala108Val) variant details
- p.Ala108Val
- ESP rs377726080
- ExAC rs377726080
- TOPMed rs377726080
- gnomAD rs377726080
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.33
- MetaLR 0.47
- MetaSVM -0.38
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Latino/Admixed American population (allele frequency 4.6e-05)
- Structural context available