G46S (p.Gly46Ser) variant of HCN1 (O60741)
G46S (p.Gly46Ser) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G46S (p.Gly46Ser) variant details
- p.Gly46Ser
- TOPMed rs1031913850
- gnomAD rs1031913850
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.28
- AlphaMissense 0.08
- MetaLR 0.70
- MetaSVM -0.09
- CADD 16.50
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available