R37C (p.Arg37Cys) variant of ABCD1 (P33897)
R37C (p.Arg37Cys) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R37C (p.Arg37Cys) variant details
- p.Arg37Cys
- rs1479670923
- ClinGen CA415097586
- ClinVar RCV003310148
- ClinVar RCV003624511
- Conflicting interpretations
- Inborn genetic diseases; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.47
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Adrenoleukodystrophy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 9.2e-05)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)