D172N (p.Asp172Asn) variant of KCNJ2 (P63252)
D172N (p.Asp172Asn) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Andersen Tawil syndrome; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
D172N (p.Asp172Asn) variant details
- p.Asp172Asn
- rs104894584
- ClinGen CA120002
- cosmic curated COSV54660
- ClinVar RCV000009482
- Pathogenic
- Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 0.83
- MetaLR 0.87
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.41
- EVE 0.24
- ClinVar: Pathogenic (Andersen Tawil syndrome; Short QT syndrome type 3)
- EBI: Pathogenic (in SQT3)
- UniProt: Pathogenic (in SQT3)
- Structural context available
- Cited in: A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. (PMID 15761194)
- Cited in: Proarrhythmia in KCNJ2-linked short QT syndrome: insights from modelling. (PMID 22308236)