R113C (p.Arg113Cys) variant of ABCD1 (P33897)
R113C (p.Arg113Cys) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R113C (p.Arg113Cys) variant details
- p.Arg113Cys
- rs1557052306
- ClinGen CA415098650
- ClinVar RCV002249219
- ClinVar RCV006448947
- Conflicting interpretations
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.76
- CADD 27.00
- PolyPhen-2 0.86
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Most common in the East Asian population (allele frequency 3.3e-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)