V17D (p.Val17Asp) variant of KCNJ5 (P48544)
V17D (p.Val17Asp) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V17D (p.Val17Asp) variant details
- p.Val17Asp
- rs745552297
- ClinGen CA6357809
- ClinVar RCV003648976
- ExAC rs745552297
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.39
- MetaLR 0.67
- MetaSVM -0.35
- CADD 19.50
- PolyPhen-2 0.21
- SIFT 0.01
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)