D120N (p.Asp120Asn) variant of GNA13 (Q14344)
D120N (p.Asp120Asn) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and published literature.
D120N (p.Asp120Asn) variant details
- p.Asp120Asn
- gnomAD 17-65053654-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.33
- MetaLR 0.62
- MetaSVM -0.01
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.57
- Population evidence available
- Literature evidence available