S61P (p.Ser61Pro) variant of KCNE2 (Q9Y6J6)
S61P (p.Ser61Pro) 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 0.77 / 1. The record also includes structural context.
S61P (p.Ser61Pro) variant details
- p.Ser61Pro
- rs1979541976
- ClinGen CA410196577
- ClinVar RCV003165306
- TOPMed rs1979541976
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.79
- MetaSVM 0.66
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available