S262W (p.Ser262Trp) variant of ABCD1 (P33897)
S262W (p.Ser262Trp) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
S262W (p.Ser262Trp) variant details
- p.Ser262Trp
- rs1204814114
- ClinGen CA415099930
- ClinVar RCV001389361
- ClinVar RCV002413919
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Adrenoleukodystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)