I21T (p.Ile21Thr) variant of GNAQ (P50148)
I21T (p.Ile21Thr) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
I21T (p.Ile21Thr) variant details
- p.Ile21Thr
- Ensembl rs2118632345
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.65
- MetaLR 0.73
- MetaSVM 0.44
- CADD 24.70
- PolyPhen-2 0.93
- SIFT 0.02
- Population evidence available
- Structural context available