R74W (p.Arg74Trp) variant of ABCD1 (P33897)
R74W (p.Arg74Trp) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R74W (p.Arg74Trp) variant details
- p.Arg74Trp
- rs2522264062
- ClinGen CA415098421
- NCI-TCGA Cosmic COSV5438
- ClinVar RCV003236250
- Likely pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.81
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 5.5e-05)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)