R7Q (p.Arg7Gln) variant of WDR45 (Q9Y484)
R7Q (p.Arg7Gln) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Neurodegeneration with brain iron accumulation 5; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- rs782671518
- ClinGen CA10408646
- NCI-TCGA Cosmic COSV5987
- cosmic curated COSV59876
- Benign/Likely benign
- Neurodegeneration with brain iron accumulation 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.32
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Benign/Likely benign (Neurodegeneration with brain iron accumulation 5; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)