M59I (p.Met59Ile) variant of KCNE2 (Q9Y6J6)
M59I (p.Met59Ile) 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 0.23 / 1. The record also includes structural context.
M59I (p.Met59Ile) variant details
- p.Met59Ile
- rs2516740964
- ClinGen CA410196556
- ClinVar RCV003296637
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- ESM-1b 0.00
- AlphaMissense 0.45
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available