V14D (p.Val14Asp) variant of KCNE2 (Q9Y6J6)
V14D (p.Val14Asp) 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 0.35 / 1. The record also includes population frequency data and structural context.
V14D (p.Val14Asp) variant details
- p.Val14Asp
- rs2516740698
- ClinGen CA410196150
- ClinVar RCV002327860
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.34
- MetaLR 0.56
- MetaSVM -0.65
- CADD 8.87
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance (in LQT6)
- UniProt: Uncertain significance (in LQT6)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available