R163G (p.Arg163Gly) variant of ABCD1 (P33897)
R163G (p.Arg163Gly) 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 0.91 / 1. The record also includes published literature and structural context.
R163G (p.Arg163Gly) variant details
- p.Arg163Gly
- rs1569540695
- ClinGen CA415098958
- ClinVar RCV001885174
- Ensembl rs1569540695
- Likely pathogenic
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 0.76
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)