A78V (p.Ala78Val) variant of HCN1 (O60741)
A78V (p.Ala78Val) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A78V (p.Ala78Val) variant details
- p.Ala78Val
- gnomAD rs1178320320
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.20
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available