R11G (p.Arg11Gly) variant of ABCD1 (P33897)
R11G (p.Arg11Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R11G (p.Arg11Gly) variant details
- p.Arg11Gly
- rs1224689084
- ClinGen CA415097286
- ClinVar RCV002266226
- ClinVar RCV003096011
- Conflicting interpretations
- Adrenoleukodystrophy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.57
- CADD 12.20
- PolyPhen-2 0.10
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Adrenoleukodystrophy; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.6e-05)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)