D75E (p.Asp75Glu) variant of GNA13 (Q14344)
D75E (p.Asp75Glu) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
D75E (p.Asp75Glu) variant details
- p.Asp75Glu
- ExAC rs766263530
- gnomAD rs766263530
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.36
- MetaLR 0.53
- MetaSVM -0.18
- CADD 23.30
- PolyPhen-2 0.96
- SIFT 0.89
- Population evidence available