H283Y (p.His283Tyr) variant of ABCD1 (P33897)
H283Y (p.His283Tyr) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
H283Y (p.His283Tyr) variant details
- p.His283Tyr
- rs782509393
- ClinGen CA415100164
- ClinVar RCV001780632
- ClinVar RCV003512134
- Likely pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.97
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.93
- CADD 25.60
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (not provided; Adrenoleukodystrophy)
- 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)