R152P (p.Arg152Pro) variant of ABCD1 (P33897)
R152P (p.Arg152Pro) 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 0.80 / 1. The record also includes published literature and structural context.
R152P (p.Arg152Pro) variant details
- p.Arg152Pro
- rs1557052367
- ClinGen CA415098893
- ClinVar RCV002046321
- ClinVar RCV003138061
- Pathogenic/Likely pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- AlphaMissense 0.44
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.60
- ClinVar: Pathogenic/Likely pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. (PMID 7825602)
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)