V34M (p.Val34Met) variant of WDR45 (Q9Y484)
V34M (p.Val34Met) 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; Neurodegeneration with brain iron accumulation 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V34M (p.Val34Met) variant details
- p.Val34Met
- rs151051355
- ClinGen CA10408621
- ClinVar RCV001523087
- ClinVar RCV001572743
- Benign/Likely benign
- not provided; Neurodegeneration with brain iron accumulation 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.20
- CADD 24.70
- PolyPhen-2 0.19
- SIFT 0.02
- ClinVar: Benign/Likely benign (not provided; Neurodegeneration with brain iron accumulation 5)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00028)
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)