T14R (p.Thr14Arg) variant of ABCD1 (P33897)
T14R (p.Thr14Arg) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T14R (p.Thr14Arg) variant details
- p.Thr14Arg
- rs782161942
- ClinGen CA10549900
- ClinVar RCV000537259
- ClinVar RCV001508971
- Conflicting interpretations
- not provided; Adrenoleukodystrophy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.21
- CADD 10.40
- PolyPhen-2 0.07
- SIFT 0.31
- ClinVar: Conflicting classifications of pathogenicity (not provided; Adrenoleukodystrophy; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Amish population (allele frequency 0.01)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)