S98L (p.Ser98Leu) variant of ABCD1 (P33897)
S98L (p.Ser98Leu) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
S98L (p.Ser98Leu) variant details
- p.Ser98Leu
- rs1557052294
- ClinGen CA415098560
- ClinVar RCV000529139
- ClinVar RCV001783035
- Pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- AlphaMissense 0.82
- MetaLR 0.84
- MetaSVM 0.71
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.36
- ClinVar: Pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first… (PMID 11438993)
- Cited in: Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy. (PMID 8651290)