V61M (p.Val61Met) variant of HCN1 (O60741)
V61M (p.Val61Met) 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 0.53 / 1. The record also includes published literature and structural context.
V61M (p.Val61Met) variant details
- p.Val61Met
- rs900254081
- ClinGen CA359706576
- ClinVar RCV004399370
- NCI-TCGA TCGA novel
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- AlphaMissense 0.19
- MetaLR 0.71
- MetaSVM -0.10
- PolyPhen-2 0.00
- SIFT 0.17
- MutPred 0.28
- 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)