V41A (p.Val41Ala) variant of KCNE2 (Q9Y6J6)
V41A (p.Val41Ala) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome 6; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V41A (p.Val41Ala) variant details
- p.Val41Ala
- rs1273269997
- ClinGen CA410196357
- ClinVar RCV000700143
- ClinVar RCV003238808
- Uncertain significance
- Long QT syndrome 6; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.66
- MetaSVM 0.05
- CADD 22.40
- ClinVar: Uncertain significance (Long QT syndrome 6; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)