M23L (p.Met23Leu) variant of KCNE2 (Q9Y6J6)
M23L (p.Met23Leu) 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; not provided; Atrial fibrillation, familial, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
M23L (p.Met23Leu) variant details
- p.Met23Leu
- rs747045005
- ClinGen CA10013396
- ClinVar RCV000678938
- ClinVar RCV002360705
- Uncertain significance
- Cardiovascular phenotype; not provided; Atrial fibrillation, familial, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.81
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.68
- MetaSVM 0.45
- CADD 15.70
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Atrial fibrillation, fam)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)