V14L (p.Val14Leu) variant of KCNE2 (Q9Y6J6)
V14L (p.Val14Leu) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in LQT6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V14L (p.Val14Leu) variant details
- p.Val14Leu
- 1000Genomes rs142153692
- ESP rs142153692
- ExAC rs142153692
- TOPMed rs142153692
- Likely benign
- in LQT6
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.49
- MetaSVM -0.49
- CADD 6.25
- EBI: Likely benign (in LQT6)
- UniProt: Likely benign (in LQT6)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available