P543L (p.Pro543Leu) variant of ABCD1 (P33897)
P543L (p.Pro543Leu) 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 0.58 / 1. The record also includes published literature and structural context.
P543L (p.Pro543Leu) variant details
- p.Pro543Leu
- rs1557054776
- ClinGen CA415112044
- NCI-TCGA Cosmic COSV9949
- ClinVar RCV000633485
- Pathogenic/Likely pathogenic
- Adrenoleukodystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- AlphaMissense 0.96
- MetaLR 0.39
- MetaSVM -0.25
- PolyPhen-2 0.79
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic/Likely pathogenic (Adrenoleukodystrophy; not provided)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. (PMID 10737980)
- Cited in: Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations. (PMID 10980539)