C43Y (p.Cys43Tyr) variant of KCNJ2 (P63252)
C43Y (p.Cys43Tyr) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Andersen Tawil syndrome; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C43Y (p.Cys43Tyr) variant details
- p.Cys43Tyr
- rs774424161
- ClinGen CA8738693
- cosmic curated COSV54664
- ClinVar RCV001362741
- Conflicting interpretations
- Cardiovascular phenotype; Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.13
- MetaLR 0.07
- MetaSVM -1.08
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Andersen Tawil syndrome; Short QT synd)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)