P100T (p.Pro100Thr) variant of GNAQ (P50148)
P100T (p.Pro100Thr) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P100T (p.Pro100Thr) variant details
- p.Pro100Thr
- Ensembl rs2118275807
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.53
- MetaLR 0.61
- MetaSVM -0.07
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.07
- Population evidence available
- Structural context available