L57P (p.Leu57Pro) variant of WDR45 (Q9Y484)
L57P (p.Leu57Pro) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurodegeneration with brain iron accumulation 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- rs1602540331
- ClinGen CA412949176
- ClinVar RCV000990820
- Ensembl rs1602540331
- Likely pathogenic
- Neurodegeneration with brain iron accumulation 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- AlphaMissense 1.00
- MetaLR 0.75
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Neurodegeneration with brain iron accumulation 5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)