S290L (p.Ser290Leu) variant of ABCD1 (P33897)
S290L (p.Ser290Leu) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
S290L (p.Ser290Leu) variant details
- p.Ser290Leu
- rs868934170
- ClinGen CA415100260
- ClinVar RCV002512421
- ClinVar RCV002569455
- Conflicting interpretations
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.92
- AlphaMissense 0.47
- MetaLR 0.99
- MetaSVM 1.02
- CADD 26.20
- PolyPhen-2 0.99
- ClinVar: Conflicting classifications of pathogenicity (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 3.4e-05)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)