H112Q (p.His112Gln) variant of WDR45 (Q9Y484)
H112Q (p.His112Gln) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
H112Q (p.His112Gln) variant details
- p.His112Gln
- rs1557084298
- ClinGen CA412946617
- ClinVar RCV003832063
- gnomAD rs1557084298
- Uncertain significance
- Neurodegeneration with brain iron accumulation 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.20
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Neurodegeneration with brain iron accumulation 5)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)