W10* (p.Trp10Ter) variant of ABCD1 (P33897)
W10* (p.Trp10Ter) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
W10* (p.Trp10Ter) variant details
- p.Trp10Ter
- rs2148388538
- ClinGen CA415097276
- ClinVar RCV001576082
- ClinVar RCV002570805
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 29.30
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)