R111H (p.Arg111His) variant of WDR45 (Q9Y484)
R111H (p.Arg111His) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R111H (p.Arg111His) variant details
- p.Arg111His
- rs782395953
- ClinGen CA10408566
- NCI-TCGA Cosmic COSV5987
- cosmic curated COSV59875
- Uncertain significance
- not provided; Neurodegeneration with brain iron accumulation 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.59
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Neurodegeneration with brain iron accumulation 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00049)
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)