S606L (p.Ser606Leu) variant of ABCD1 (P33897)
S606L (p.Ser606Leu) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
S606L (p.Ser606Leu) variant details
- p.Ser606Leu
- rs128624225
- ClinGen CA121420
- ClinVar RCV000012062
- ClinVar RCV000180094
- Pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.94
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Population evidence available
- Structural context available
- Cited in: Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked… (PMID 10190819)
- Cited in: Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette… (PMID 11248239)