G54D (p.Gly54Asp) variant of HCN1 (O60741)
G54D (p.Gly54Asp) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G54D (p.Gly54Asp) variant details
- p.Gly54Asp
- TOPMed rs1391013594
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.31
- AlphaMissense 0.09
- MetaLR 0.68
- MetaSVM -0.18
- CADD 20.30
- PolyPhen-2 0.20
- Population evidence available
- Structural context available