S38N (p.Ser38Asn) variant of KCNE1 (P15382)
S38N (p.Ser38Asn) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S38N (p.Ser38Asn) variant details
- p.Ser38Asn
- rs1057522990
- ClinGen CA16608493
- ClinVar RCV000427530
- ClinVar RCV004022427
- Conflicting interpretations
- Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.59
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified)
- EBI: Likely benign (in dbSNP:rs1805127)
- UniProt: Likely benign (in dbSNP:rs1805127)
- Population evidence available
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)