G298S (p.Gly298Ser) variant of ABCD1 (P33897)
G298S (p.Gly298Ser) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G298S (p.Gly298Ser) variant details
- p.Gly298Ser
- rs1603232243
- ClinGen CA415100354
- ClinVar RCV000824100
- ClinVar RCV005633758
- Pathogenic/Likely pathogenic
- Adrenoleukodystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.95
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Adrenoleukodystrophy; not provided)
- 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)