D126N (p.Asp126Asn) variant of GNA13 (Q14344)
D126N (p.Asp126Asn) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
D126N (p.Asp126Asn) variant details
- p.Asp126Asn
- gnomAD 17-65053636-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.41
- MetaLR 0.74
- MetaSVM 0.62
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.17
- Population evidence available
- Literature evidence available