L523P (p.Leu523Pro) variant of ABCD1 (P33897)
L523P (p.Leu523Pro) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
L523P (p.Leu523Pro) variant details
- p.Leu523Pro
- rs2091762647
- ClinGen CA415111470
- ClinVar RCV001218702
- Ensembl rs2091762647
- Conflicting interpretations
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- AlphaMissense 0.99
- MetaLR 0.65
- MetaSVM 0.56
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Conflicting classifications of pathogenicity (Adrenoleukodystrophy)
- EBI: Variant of uncertain significance (in ALD)
- UniProt: Uncertain significance (in ALD)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)