R13H (p.Arg13His) variant of WDR45 (Q9Y484)
R13H (p.Arg13His) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; not specified; Neurodegeneration with brain iron accumulation 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R13H (p.Arg13His) variant details
- p.Arg13His
- rs201177026
- ClinGen CA10408642
- ClinVar RCV001200324
- ClinVar RCV001516392
- Benign/Likely benign
- not provided; not specified; Neurodegeneration with brain iron accumulation 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.05
- AlphaMissense 0.35
- MetaLR 0.17
- MetaSVM -0.88
- CADD 18.90
- PolyPhen-2 0.00
- ClinVar: Benign/Likely benign (not provided; not specified; Neurodegeneration with brain iron a)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:FIN population (allele frequency 0.0063)
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)