S633R (p.Ser633Arg) variant of ABCD1 (P33897)
S633R (p.Ser633Arg) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adrenoleukodystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S633R (p.Ser633Arg) variant details
- p.Ser633Arg
- rs202125585
- ClinGen CA415116871
- ClinVar RCV001230853
- ClinVar RCV003130204
- Pathogenic/Likely pathogenic
- Adrenoleukodystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.78
- CADD 9.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Adrenoleukodystrophy; not provided)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Population evidence available
- Structural context available
- Cited in: Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. (PMID 10737980)
- Cited in: X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. (PMID 21700483)