R617C (p.Arg617Cys) variant of ABCD1 (P33897)
R617C (p.Arg617Cys) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R617C (p.Arg617Cys) variant details
- p.Arg617Cys
- rs4010613
- ClinGen CA278117
- ClinVar RCV000012065
- ClinVar RCV001093003
- Pathogenic/Likely pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.96
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.90
- CADD 29.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. (PMID 7825602)
- Cited in: Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. (PMID 8040304)