G45A (p.Gly45Ala) variant of HCN1 (O60741)
G45A (p.Gly45Ala) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G45A (p.Gly45Ala) variant details
- p.Gly45Ala
- TOPMed rs1740003977
- gnomAD rs1740003977
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.23
- AlphaMissense 0.07
- MetaLR 0.68
- MetaSVM -0.23
- CADD 16.00
- PolyPhen-2 0.00
- Most common in the South Asian population (allele frequency 2.2e-05)
- Structural context available