R8W (p.Arg8Trp) variant of ABCD1 (P33897)
R8W (p.Arg8Trp) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- rs2091702555
- ClinGen CA415097251
- ClinVar RCV002928009
- ClinVar RCV003138398
- Uncertain significance
- not provided; Inborn genetic diseases; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.42
- CADD 16.90
- PolyPhen-2 0.33
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Adrenoleukodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.9e-05)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)