T8K (p.Thr8Lys) variant of KCNE2 (Q9Y6J6)
T8K (p.Thr8Lys) 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 0.57 / 1. The record also includes structural context.
T8K (p.Thr8Lys) variant details
- p.Thr8Lys
- rs35759083
- ClinGen CA410196114
- ClinVar RCV004524861
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- ESM-1b 0.00
- AlphaMissense 0.67
- MetaLR 0.84
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance (in dbSNP:rs35759083)
- UniProt: Uncertain significance (in dbSNP:rs35759083)
- Structural context available