G46R (p.Gly46Arg) variant of HCN1 (O60741)
G46R (p.Gly46Arg) 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 0.40 / 1. The record also includes population frequency data and structural context.
G46R (p.Gly46Arg) variant details
- p.Gly46Arg
- TOPMed rs1031913850
- gnomAD rs1031913850
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.35
- AlphaMissense 0.42
- MetaLR 0.75
- MetaSVM 0.13
- CADD 17.20
- PolyPhen-2 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available