A29D (p.Ala29Asp) variant of KCNJ5 (P48544)
A29D (p.Ala29Asp) 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.
A29D (p.Ala29Asp) variant details
- p.Ala29Asp
- rs863224689
- ClinGen CA338459
- NCI-TCGA Cosmic COSV5796
- cosmic curated COSV57966
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.34
- MetaLR 0.68
- MetaSVM 0.50
- CADD 22.70
- PolyPhen-2 0.70
- SIFT 0.10
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)