G67S (p.Gly67Ser) variant of HCN1 (O60741)
G67S (p.Gly67Ser) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G67S (p.Gly67Ser) variant details
- p.Gly67Ser
- rs1427664939
- ClinGen CA359706539
- ClinVar RCV004981006
- ClinVar RCV006563825
- Uncertain significance
- Inborn genetic diseases; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.28
- CADD 19.20
- PolyPhen-2 0.86
- SIFT 0.43
- ClinVar: Uncertain significance (Inborn genetic diseases; Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)