V41G (p.Val41Gly) variant of KCNE2 (Q9Y6J6)
V41G (p.Val41Gly) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
V41G (p.Val41Gly) variant details
- p.Val41Gly
- TOPMed rs1273269997
- gnomAD rs1273269997
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.55
- ESM-1b 0.46
- AlphaMissense 0.25
- MetaLR 0.74
- MetaSVM 0.23
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available