D75H (p.Asp75His) variant of GNA13 (Q14344)
D75H (p.Asp75His) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
D75H (p.Asp75His) variant details
- p.Asp75His
- 1000Genomes rs547541013
- TOPMed rs547541013
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.60
- MetaLR 0.77
- MetaSVM 0.70
- CADD 28.50
- SIFT 0.12
- Most common in the 1KG:KHV population (allele frequency 0.005)