A387S (p.Ala387Ser) variant of HCN1 (O60741)
A387S (p.Ala387Ser) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Early-infantile DEE; Developmental and epileptic encephalopathy, 24; Inborn gene. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
A387S (p.Ala387Ser) variant details
- p.Ala387Ser
- rs2112040690
- ClinGen CA359705294
- ClinVar RCV002370611
- ClinVar RCV006468613
- Conflicting interpretations
- Early-infantile DEE; Developmental and epileptic encephalopathy, 24; Inborn gene
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.74
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; Developmental and epileptic encephalopathy,)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)