S656F (p.Ser656Phe) variant of ABCD1 (P33897)
S656F (p.Ser656Phe) 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 0.95 / 1. The record also includes published literature and structural context.
S656F (p.Ser656Phe) variant details
- p.Ser656Phe
- rs1603236020
- ClinGen CA415117728
- ClinVar RCV000856679
- Ensembl rs1603236020
- Likely pathogenic
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- 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)