R11P (p.Arg11Pro) variant of ABCD1 (P33897)
R11P (p.Arg11Pro) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R11P (p.Arg11Pro) variant details
- p.Arg11Pro
- rs782122122
- ClinGen CA337233471
- ClinVar RCV001483807
- 1000Genomes rs782122122
- Conflicting interpretations
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.52
- CADD 17.40
- PolyPhen-2 0.23
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Adrenoleukodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00013)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)