A23P (p.Ala23Pro) variant of HCN1 (O60741)
A23P (p.Ala23Pro) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A23P (p.Ala23Pro) variant details
- p.Ala23Pro
- gnomAD rs1740006250
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.23
- AlphaMissense 0.71
- MetaLR 0.79
- MetaSVM 0.35
- CADD 14.10
- PolyPhen-2 0.04
- Most common in the East Asian population (allele frequency 9.3e-05)
- Structural context available