G63D (p.Gly63Asp) variant of HCN4 (Q9Y3Q4)
G63D (p.Gly63Asp) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G63D (p.Gly63Asp) variant details
- p.Gly63Asp
- rs1432580542
- TOPMed rs1432580542
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.32
- MetaLR 0.82
- MetaSVM 0.77
- CADD 15.90
- PolyPhen-2 0.46
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available