R13P (p.Arg13Pro) variant of WDR45 (Q9Y484)
R13P (p.Arg13Pro) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Neurodegeneration with brain iron accumulation 5; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R13P (p.Arg13Pro) variant details
- p.Arg13Pro
- rs201177026
- ClinGen CA412949514
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10054
- Conflicting interpretations
- Neurodegeneration with brain iron accumulation 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- AlphaMissense 0.35
- MetaLR 0.17
- MetaSVM -0.88
- PolyPhen-2 0.00
- SIFT 0.06
- EVE 0.48
- ClinVar: Conflicting classifications of pathogenicity (Neurodegeneration with brain iron accumulation 5; not provided)
- EBI: Likely pathogenic
- UniProt: Likely 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)