G67R (p.Gly67Arg) variant of HCN1 (O60741)
G67R (p.Gly67Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G67R (p.Gly67Arg) variant details
- p.Gly67Arg
- rs1427664939
- ClinGen CA359706538
- ClinVar RCV002313570
- ClinVar RCV005367523
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.37
- CADD 20.90
- PolyPhen-2 0.97
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)