D13Y (p.Asp13Tyr) variant of KCNE2 (Q9Y6J6)
D13Y (p.Asp13Tyr) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar 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 0.30 / 1. The record also includes structural context.
D13Y (p.Asp13Tyr) variant details
- p.Asp13Tyr
- TOPMed rs1979530504
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.23
- ESM-1b 0.12
- AlphaMissense 0.11
- MetaLR 0.57
- MetaSVM -0.16
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Structural context available