S80P (p.Ser80Pro) variant of KCNE2 (Q9Y6J6)
S80P (p.Ser80Pro) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S80P (p.Ser80Pro) variant details
- p.Ser80Pro
- rs893883306
- ClinGen CA320365717
- ClinVar RCV001963972
- TOPMed rs893883306
- Uncertain significance
- Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.70
- MetaLR 0.66
- MetaSVM -0.01
- CADD 22.80
- ClinVar: Uncertain significance (Long QT syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)