L106P (p.Leu106Pro) variant of WDR45 (Q9Y484)
L106P (p.Leu106Pro) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurodegeneration with brain iron accumulation 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
L106P (p.Leu106Pro) variant details
- p.Leu106Pro
- rs1557084306
- ClinGen CA412946722
- ClinVar RCV000650358
- Ensembl rs1557084306
- Uncertain significance
- Neurodegeneration with brain iron accumulation 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- AlphaMissense 0.99
- MetaLR 0.48
- MetaSVM -0.01
- PolyPhen-2 0.99
- SIFT 0.09
- EVE 0.79
- ClinVar: Uncertain significance (Neurodegeneration with brain iron accumulation 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)