N60S (p.Asn60Ser) variant of KCNJ2 (P63252)
N60S (p.Asn60Ser) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Short QT syndrome type 3; Andersen Tawil syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
N60S (p.Asn60Ser) variant details
- p.Asn60Ser
- rs1484750176
- ClinGen CA400860046
- ClinVar RCV001914205
- ClinVar RCV002223328
- Uncertain significance
- not provided; Short QT syndrome type 3; Andersen Tawil syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.74
- MetaLR 0.90
- MetaSVM 0.98
- CADD 25.20
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Short QT syndrome type 3; Andersen Tawil syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-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)