L65S (p.Leu65Ser) variant of WDR45 (Q9Y484)
L65S (p.Leu65Ser) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Neurodegeneration with brain iron accumulation 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
L65S (p.Leu65Ser) variant details
- p.Leu65Ser
- rs2147817457
- ClinGen CA412949127
- ClinVar RCV001948780
- ClinVar RCV004793632
- Uncertain significance
- not provided; Neurodegeneration with brain iron accumulation 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- AlphaMissense 0.99
- MetaLR 0.63
- MetaSVM 0.38
- PolyPhen-2 0.78
- SIFT 0.00
- EVE 0.47
- ClinVar: Uncertain significance (not provided; 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)