G29V (p.Gly29Val) variant of HCN1 (O60741)
G29V (p.Gly29Val) 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.
G29V (p.Gly29Val) variant details
- p.Gly29Val
- TOPMed rs1391977771
- gnomAD rs1391977771
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.31
- AlphaMissense 0.16
- MetaLR 0.77
- MetaSVM 0.43
- CADD 15.70
- PolyPhen-2 0.04
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available