S284L (p.Ser284Leu) variant of ABCD1 (P33897)
S284L (p.Ser284Leu) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Adrenoleukodystrophy; Inborn genetic diseases; 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.
S284L (p.Ser284Leu) variant details
- p.Ser284Leu
- rs2091711722
- ClinGen CA415100189
- NCI-TCGA Cosmic COSV9949
- cosmic curated COSV99497
- Conflicting interpretations
- Adrenoleukodystrophy; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.95
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Adrenoleukodystrophy; Inborn genetic diseases; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)