G86R (p.Gly86Arg) variant of HCN1 (O60741)
G86R (p.Gly86Arg) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G86R (p.Gly86Arg) variant details
- p.Gly86Arg
- rs760568557
- ClinGen CA3259488
- ClinVar RCV005572351
- ClinVar RCV006609623
- Conflicting interpretations
- Inborn genetic diseases; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.45
- AlphaMissense 1.00
- MetaLR 0.61
- MetaSVM 0.35
- CADD 21.30
- PolyPhen-2 0.62
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Early-infantile DEE)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)