G70R (p.Gly70Arg) variant of HCN1 (O60741)
G70R (p.Gly70Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
G70R (p.Gly70Arg) variant details
- p.Gly70Arg
- rs1255330911
- ClinGen CA359706521
- ClinVar RCV002424033
- NCI-TCGA TCGA novel
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- AlphaMissense 0.10
- MetaLR 0.77
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.58
- MutPred 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)