G45D (p.Gly45Asp) variant of HCN1 (O60741)
G45D (p.Gly45Asp) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G45D (p.Gly45Asp) variant details
- p.Gly45Asp
- TOPMed rs1740003977
- gnomAD rs1740003977
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.27
- AlphaMissense 0.17
- MetaLR 0.66
- MetaSVM -0.27
- CADD 17.60
- PolyPhen-2 0.00
- Most common in the South Asian population (allele frequency 4.4e-05)
- Structural context available