M54V (p.Met54Val) variant of KCNE2 (Q9Y6J6)
M54V (p.Met54Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
M54V (p.Met54Val) variant details
- p.Met54Val
- rs371724328
- ClinGen CA10013416
- ClinVar RCV001208257
- ESP rs371724328
- Uncertain significance
- Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.62
- MetaSVM 0.55
- CADD 19.80
- ClinVar: Uncertain significance (Long QT syndrome 6)
- EBI: Variant of uncertain significance (in LQT6)
- UniProt: Uncertain significance (in LQT6)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)