G54R (p.Gly54Arg) variant of HCN1 (O60741)
G54R (p.Gly54Arg) 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; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- rs1245405853
- ClinGen CA359706625
- ClinVar RCV001266029
- ClinVar RCV006557291
- Uncertain significance
- Inborn genetic diseases; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.33
- CADD 15.30
- PolyPhen-2 0.42
- SIFT 0.44
- ClinVar: Uncertain significance (Inborn genetic diseases; Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-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)