R152H (p.Arg152His) variant of ABCD1 (P33897)
R152H (p.Arg152His) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R152H (p.Arg152His) variant details
- p.Arg152His
- rs1557052367
- ClinGen CA415098892
- NCI-TCGA Cosmic COSV5438
- ClinVar RCV003513336
- Likely pathogenic
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.92
- AlphaMissense 0.44
- MetaLR 0.99
- MetaSVM 1.03
- CADD 29.50
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)