M1K (p.Met1Lys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
M1K (p.Met1Lys) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs199473485
- ClinGen CA379115663
- ClinVar RCV000578700
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- ESM-1b 0.91
- AlphaMissense 0.66
- MetaLR 0.90
- MetaSVM 0.91
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available