A15T (p.Ala15Thr) variant of GNAQ (P50148)
A15T (p.Ala15Thr) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- TOPMed rs1824053956
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.37
- MetaLR 0.58
- MetaSVM -0.03
- CADD 22.80
- PolyPhen-2 0.20
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available