D71V (p.Asp71Val) variant of KCNJ2 (P63252)
D71V (p.Asp71Val) 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 0.98 / 1. The record also includes published literature and structural context.
D71V (p.Asp71Val) variant details
- p.Asp71Val
- rs104894575
- ClinGen CA254592
- ClinVar RCV000009473
- ClinVar RCV000058298
- Pathogenic
- Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Andersen Tawil syndrome; Short QT syndrome type 3)
- EBI: Pathogenic (in LQT7)
- UniProt: Pathogenic (in LQT7)
- Structural context available
- Cited in: Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. (PMID 11371347)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)