G80S (p.Gly80Ser) variant of HCN1 (O60741)
G80S (p.Gly80Ser) 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 0.28 / 1. The record also includes population frequency data and structural context.
G80S (p.Gly80Ser) variant details
- p.Gly80Ser
- ExAC rs754990881
- gnomAD rs754990881
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.19
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available