G266R (p.Gly266Arg) variant of ABCD1 (P33897)
G266R (p.Gly266Arg) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases; not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G266R (p.Gly266Arg) variant details
- p.Gly266Arg
- rs128624218
- ClinGen CA278105
- ClinVar RCV000012051
- ClinVar RCV000723479
- Likely pathogenic
- Inborn genetic diseases; not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.98
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked… (PMID 10190819)
- Cited in: Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy… (PMID 20661612)