I31V (p.Ile31Val) variant of WDR45 (Q9Y484)
I31V (p.Ile31Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
I31V (p.Ile31Val) variant details
- p.Ile31Val
- rs781803477
- ClinGen CA10408623
- ClinVar RCV000817703
- ClinVar RCV001772125
- Uncertain significance
- Neurodegeneration with brain iron accumulation 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.09
- CADD 15.50
- PolyPhen-2 0.04
- SIFT 0.85
- ClinVar: Uncertain significance (Neurodegeneration with brain iron accumulation 5; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00014)
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)