M1V (p.Met1Val) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
M1V (p.Met1Val) 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 0.64 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs199473441
- ClinGen CA006661
- ClinVar RCV000057654
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- ESM-1b 0.57
- AlphaMissense 0.15
- MetaLR 0.89
- MetaSVM 0.84
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: not provided (Congenital long QT syndrome)
- UniProt: Not provided
- Structural context available