A78S (p.Ala78Ser) variant of HCN1 (O60741)
A78S (p.Ala78Ser) in HCN1 (O60741) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A78S (p.Ala78Ser) variant details
- p.Ala78Ser
- ESP rs376072704
- ExAC rs376072704
- TOPMed rs376072704
- gnomAD rs376072704
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.21
- CADD 8.53
- PolyPhen-2 0.00
- SIFT 0.75
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available