Y68D (p.Tyr68Asp) variant of KCNJ2 (P63252)
Y68D (p.Tyr68Asp) in KCNJ2 (P63252) 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 0.94 / 1. The record also includes structural context.
Y68D (p.Tyr68Asp) variant details
- p.Tyr68Asp
- rs199473651
- ClinGen CA329639
- ClinVar RCV000058296
- Ensembl rs199473651
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: not provided (Congenital long QT syndrome)
- UniProt: Not provided
- Structural context available