Y47C (p.Tyr47Cys) variant of KCNE2 (Q9Y6J6)
Y47C (p.Tyr47Cys) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Y47C (p.Tyr47Cys) variant details
- p.Tyr47Cys
- rs757779830
- ClinGen CA410196405
- ClinVar RCV002389454
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.66
- MetaSVM 0.38
- CADD 24.30
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available