T2A (p.Thr2Ala) variant of GNA11 (P29992)
T2A (p.Thr2Ala) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
T2A (p.Thr2Ala) variant details
- p.Thr2Ala
- Ensembl rs2145300227
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.28
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.43
- Population evidence available
- Structural context available