W10C (p.Trp10Cys) variant of ABCD1 (P33897)
W10C (p.Trp10Cys) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Adrenoleukodystrophy; not specified; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
W10C (p.Trp10Cys) variant details
- p.Trp10Cys
- rs1304001811
- TOPMed rs1304001811
- gnomAD rs1304001811
- ClinGen CA415097283
- Conflicting interpretations
- Adrenoleukodystrophy; not specified; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.28
- CADD 4.09
- PolyPhen-2 0.09
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Adrenoleukodystrophy; not specified; Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)