A131G (p.Ala131Gly) variant of GNAQ (P50148)
A131G (p.Ala131Gly) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
A131G (p.Ala131Gly) variant details
- p.Ala131Gly
- TOPMed rs1362009464
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.55
- MetaLR 0.74
- MetaSVM 0.28
- CADD 24.20
- PolyPhen-2 0.11
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available