A50T (p.Ala50Thr) variant of HCN1 (O60741)
A50T (p.Ala50Thr) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- gnomAD rs1462816724
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.20
- AlphaMissense 0.07
- MetaLR 0.70
- MetaSVM 0.47
- CADD 11.80
- PolyPhen-2 0.95
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0001)
- Structural context available