G85D (p.Gly85Asp) variant of HCN4 (Q9Y3Q4)
G85D (p.Gly85Asp) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G85D (p.Gly85Asp) variant details
- p.Gly85Asp
- gnomAD rs1397898750
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.39
- MetaLR 0.64
- MetaSVM -0.02
- CADD 11.20
- PolyPhen-2 0.17
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available