Y27S (p.Tyr27Ser) variant of ABCD1 (P33897)
Y27S (p.Tyr27Ser) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
Y27S (p.Tyr27Ser) variant details
- p.Tyr27Ser
- rs1569540665
- ClinGen CA415097462
- ClinVar RCV000761212
- Ensembl rs1569540665
- Likely pathogenic
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- AlphaMissense 0.41
- MetaLR 0.64
- MetaSVM 0.21
- PolyPhen-2 0.91
- SIFT 0.15
- MutPred 0.51
- ClinVar: Likely pathogenic (Adrenoleukodystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)