K34N (p.Lys34Asn) variant of KCNJ2 (P63252)
K34N (p.Lys34Asn) 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; not provided; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K34N (p.Lys34Asn) variant details
- p.Lys34Asn
- rs1476737505
- ClinGen CA400859865
- ClinVar RCV002036431
- ClinVar RCV003161305
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.26
- MetaLR 0.55
- MetaSVM -0.21
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Short QT syndrome type 3)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)