R280C (p.Arg280Cys) variant of ABCD1 (P33897)
R280C (p.Arg280Cys) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of History of neurodevelopmental disorder; ABCD1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R280C (p.Arg280Cys) variant details
- p.Arg280Cys
- rs193922098
- ClinGen CA278382
- NCI-TCGA Cosmic COSV5438
- ClinVar RCV000029290
- Pathogenic/Likely pathogenic
- History of neurodevelopmental disorder; ABCD1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.97
- AlphaMissense 0.76
- MetaLR 1.00
- MetaSVM 0.89
- CADD 29.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (History of neurodevelopmental disorder; ABCD1-related disorder;)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Most common in the East Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. (PMID 11748843)
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)