T2S (p.Thr2Ser) variant of GNA11 (P29992)
T2S (p.Thr2Ser) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T2S (p.Thr2Ser) variant details
- p.Thr2Ser
- gnomAD 19-3094655-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.30
- CADD 18.50
- PolyPhen-2 0.06
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available