G46C (p.Gly46Cys) variant of HCN1 (O60741)
G46C (p.Gly46Cys) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G46C (p.Gly46Cys) variant details
- p.Gly46Cys
- rs1031913850
- ClinGen CA359706675
- ClinVar RCV002384526
- ClinVar RCV006466736
- Uncertain significance
- Early-infantile DEE; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.38
- AlphaMissense 0.14
- MetaLR 0.76
- MetaSVM 0.38
- CADD 22.10
- PolyPhen-2 0.88
- ClinVar: Uncertain significance (Early-infantile DEE; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 4.2e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)