R104H (p.Arg104His) variant of ABCD1 (P33897)
R104H (p.Arg104His) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R104H (p.Arg104His) variant details
- p.Arg104His
- rs1557052302
- ClinGen CA415098597
- NCI-TCGA Cosmic COSV9949
- ClinVar RCV000544041
- Pathogenic/Likely pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.95
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Population evidence available
- Structural context available
- Cited in: Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. (PMID 7717396)
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)