P186L (p.Pro186Leu) variant of KCNJ2 (P63252)
P186L (p.Pro186Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
P186L (p.Pro186Leu) variant details
- p.Pro186Leu
- rs104894581
- ClinGen CA254596
- ClinVar RCV000009479
- ClinVar RCV000058319
- Pathogenic
- Andersen Tawil syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Andersen Tawil syndrome)
- EBI: Pathogenic (in LQT7)
- UniProt: Pathogenic (in LQT7)
- Structural context available
- Cited in: Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). (PMID 12163457)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)