R285S (p.Arg285Ser) variant of ABCD1 (P33897)
R285S (p.Arg285Ser) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R285S (p.Arg285Ser) variant details
- p.Arg285Ser
- rs782334088
- ClinGen CA415100191
- ClinVar RCV001044072
- ClinVar RCV003141962
- Uncertain significance
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.80
- AlphaMissense 0.97
- MetaLR 0.91
- MetaSVM 1.09
- CADD 24.70
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Population evidence available
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)