R152C (p.Arg152Cys) variant of ABCD1 (P33897)
R152C (p.Arg152Cys) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adrenoleukodystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R152C (p.Arg152Cys) variant details
- p.Arg152Cys
- rs1569540693
- ClinGen CA415098891
- ClinVar RCV000700171
- ClinVar RCV001288421
- Pathogenic/Likely pathogenic
- Adrenoleukodystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.94
- AlphaMissense 0.81
- MetaLR 0.99
- MetaSVM 1.02
- CADD 27.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Adrenoleukodystrophy; not provided)
- 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: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)