S38D (p.Ser38Asp) variant of KCNE1 (P15382)
S38D (p.Ser38Asp) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; KCNE1-related disorder; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
S38D (p.Ser38Asp) variant details
- p.Ser38Asp
- rs1064795410
- ClinGen CA16620989
- ClinVar RCV000478086
- ClinVar RCV003278832
- Conflicting interpretations
- Cardiovascular phenotype; KCNE1-related disorder; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- ESM-1b 0.00
- AlphaMissense 0.06
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; KCNE1-related disorder; not specified)
- EBI: Likely benign (in dbSNP:rs1805127)
- UniProt: Likely benign (in dbSNP:rs1805127)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)