E33K (p.Glu33Lys) variant of KCNE2 (Q9Y6J6)
E33K (p.Glu33Lys) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- rs1131691291
- ClinGen CA410196271
- ClinVar RCV000493451
- Ensembl rs1131691291
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.61
- MetaSVM -0.17
- PolyPhen-2 0.34
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available