G44R (p.Gly44Arg) variant of HCN1 (O60741)
G44R (p.Gly44Arg) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G44R (p.Gly44Arg) variant details
- p.Gly44Arg
- rs1421975269
- TOPMed rs1421975269
- gnomAD rs1421975269
- ClinGen CA359706688
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.34
- AlphaMissense 0.08
- MetaLR 0.73
- MetaSVM -0.19
- CADD 17.80
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available