T2I (p.Thr2Ile) variant of WDR45 (Q9Y484)
T2I (p.Thr2Ile) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Neurodegeneration with brain iron accumulation 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T2I (p.Thr2Ile) variant details
- p.Thr2Ile
- rs2147817901
- ClinGen CA412949578
- ClinVar RCV002167196
- Ensembl rs2147817901
- Conflicting interpretations
- Neurodegeneration with brain iron accumulation 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.29
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Neurodegeneration with brain iron accumulation 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.3e-06)
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)