P560L (p.Pro560Leu) variant of ABCD1 (P33897)
P560L (p.Pro560Leu) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P560L (p.Pro560Leu) variant details
- p.Pro560Leu
- rs398123105
- ClinGen CA278408
- NCI-TCGA Cosmic COSV9949
- ClinVar RCV000077958
- Pathogenic
- Inborn genetic diseases; not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.90
- AlphaMissense 0.97
- MetaLR 0.89
- MetaSVM 0.99
- CADD 25.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy… (PMID 20661612)
- Cited in: X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. (PMID 21700483)