D112G (p.Asp112Gly) variant of GNA13 (Q14344)
D112G (p.Asp112Gly) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
D112G (p.Asp112Gly) variant details
- p.Asp112Gly
- TOPMed rs1048905622
- gnomAD rs1048905622
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.43
- MetaLR 0.64
- MetaSVM 0.14
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)