D120E (p.Asp120Glu) variant of GNA13 (Q14344)
D120E (p.Asp120Glu) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and published literature.
D120E (p.Asp120Glu) variant details
- p.Asp120Glu
- gnomAD 17-65053652-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.19
- MetaLR 0.34
- MetaSVM -0.77
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Literature evidence available