Y33* (p.Tyr33Ter) variant of ABCD1 (P33897)
Y33* (p.Tyr33Ter) in ABCD1 (P33897) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Y33* (p.Tyr33Ter) variant details
- p.Tyr33Ter
- rs2522263168
- ClinGen CA415097542
- ClinVar RCV003513705
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 34.00
- 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)