N148S (p.Asn148Ser) variant of ABCD1 (P33897)
N148S (p.Asn148Ser) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
N148S (p.Asn148Ser) variant details
- p.Asn148Ser
- rs128624216
- ClinGen CA278103
- ClinVar RCV000012049
- ClinVar RCV001268346
- Pathogenic/Likely pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- AlphaMissense 0.60
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic/Likely pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked… (PMID 10190819)
- Cited in: X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and… (PMID 10480364)