R30H (p.Arg30His) variant of WDR45 (Q9Y484)
R30H (p.Arg30His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R30H (p.Arg30His) variant details
- p.Arg30His
- rs2065047023
- ClinGen CA412949378
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10054
- Uncertain significance
- Neurodegeneration with brain iron accumulation 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.52
- CADD 23.80
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Uncertain significance (Neurodegeneration with brain iron accumulation 5; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)