D38N (p.Asp38Asn) variant of KCNJ5 (P48544)
D38N (p.Asp38Asn) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
D38N (p.Asp38Asn) variant details
- p.Asp38Asn
- rs2135998525
- ClinGen CA383245909
- cosmic curated COSV57966
- ClinVar RCV002017310
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.28
- MetaLR 0.59
- MetaSVM -0.26
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)