A36T (p.Ala36Thr) variant of GNAQ (P50148)
A36T (p.Ala36Thr) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- Ensembl rs2118632185
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.45
- MetaLR 0.64
- MetaSVM 0.29
- CADD 22.40
- PolyPhen-2 0.12
- SIFT 0.01
- Population evidence available
- Structural context available