D112N (p.Asp112Asn) variant of GNA13 (Q14344)
D112N (p.Asp112Asn) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and published literature.
D112N (p.Asp112Asn) variant details
- p.Asp112Asn
- gnomAD 17-65053678-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.35
- MetaLR 0.36
- MetaSVM -0.53
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.75
- Population evidence available
- Literature evidence available