A66C (p.Ala66Cys) variant of KCNE2 (Q9Y6J6)
A66C (p.Ala66Cys) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in LQT6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
A66C (p.Ala66Cys) variant details
- p.Ala66Cys
- NCI-TCGA Cosmic COSV9928
- Uncertain significance
- in LQT6
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.63
- MetaLR 0.72
- MetaSVM 0.23
- SIFT 0.00
- EBI: uncertain significance (in LQT6)
- UniProt: Uncertain significance (in LQT6)
- Structural context available