H667Y (p.His667Tyr) variant of ABCD1 (P33897)
H667Y (p.His667Tyr) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
H667Y (p.His667Tyr) variant details
- p.His667Tyr
- rs2091775068
- ClinGen CA415118114
- ClinVar RCV001048143
- ClinVar RCV005630857
- Conflicting interpretations
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Conflicting classifications of pathogenicity (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)