A2V (p.Ala2Val) variant of GNA13 (Q14344)
A2V (p.Ala2Val) in GNA13 (Q14344) 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.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- Ensembl rs1908071705
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.52
- MetaLR 0.72
- MetaSVM 0.61
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.04
- Population evidence available