R232H (p.Arg232His) variant of WDR45 (Q9Y484)
R232H (p.Arg232His) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neurodegeneration with brain iron accumulation 5; See cases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R232H (p.Arg232His) variant details
- p.Arg232His
- rs781978699
- ClinGen CA10408484
- NCI-TCGA Cosmic COSV5987
- Pathogenic/Likely pathogenic
- Neurodegeneration with brain iron accumulation 5; See cases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- AlphaMissense 0.99
- MetaLR 0.67
- MetaSVM 0.55
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (Neurodegeneration with brain iron accumulation 5; See cases; not)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)