D21H (p.Asp21His) variant of KCNJ5 (P48544)
D21H (p.Asp21His) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D21H (p.Asp21His) variant details
- p.Asp21His
- rs974247640
- ClinGen CA230640344
- ClinVar RCV002675956
- ClinVar RCV003229095
- Uncertain significance
- not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.23
- MetaLR 0.53
- MetaSVM -0.20
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (not provided; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)