G54C (p.Gly54Cys) variant of HCN1 (O60741)
G54C (p.Gly54Cys) 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 0.45 / 1. The record also includes population frequency data and structural context.
G54C (p.Gly54Cys) variant details
- p.Gly54Cys
- TOPMed rs1245405853
- gnomAD rs1245405853
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.38
- CADD 23.00
- PolyPhen-2 0.67
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.2e-05)
- Structural context available