D4N (p.Asp4Asn) variant of KCNJ5 (P48544)
D4N (p.Asp4Asn) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D4N (p.Asp4Asn) variant details
- p.Asp4Asn
- rs529755922
- ClinGen CA302082
- ClinVar RCV000170998
- ClinVar RCV001088885
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.27
- MetaLR 0.72
- MetaSVM -0.65
- CADD 24.20
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:KHV population (allele frequency 0.005)
- 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)