S656P (p.Ser656Pro) variant of ABCD1 (P33897)
S656P (p.Ser656Pro) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of ABCD1-related disorder; not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
S656P (p.Ser656Pro) variant details
- p.Ser656Pro
- rs2148399307
- ClinGen CA415117708
- ClinVar RCV001878561
- ClinVar RCV003136216
- Conflicting interpretations
- ABCD1-related disorder; not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.95
- CADD 27.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (ABCD1-related disorder; not provided; Adrenoleukodystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)