M1T (p.Met1Thr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
M1T (p.Met1Thr) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. The available record places it in the context of Congenital long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs199473485
- ClinGen CA006772
- ClinVar RCV000057656
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- ESM-1b 0.69
- AlphaMissense 0.54
- MetaLR 0.90
- MetaSVM 0.91
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: not provided (Congenital long QT syndrome)
- UniProt: Not provided
- Structural context available