L68P (p.Leu68Pro) variant of KCNE2 (Q9Y6J6)
L68P (p.Leu68Pro) 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 0.79 / 1. The record also includes population frequency data and structural context.
L68P (p.Leu68Pro) variant details
- p.Leu68Pro
- gnomAD rs1979543909
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.86
- MetaSVM 0.91
- CADD 28.80
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available