N61K (p.Asn61Lys) variant of WDR45 (Q9Y484)
N61K (p.Asn61Lys) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases; not provided; Neurodegeneration with brain iron accumul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
N61K (p.Asn61Lys) variant details
- p.Asn61Lys
- rs2065045729
- ClinGen CA412949149
- ClinVar RCV001052749
- ClinVar RCV001091505
- Likely pathogenic
- Inborn genetic diseases; not provided; Neurodegeneration with brain iron accumul
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.69
- CADD 23.90
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (Neurodegeneration with brain iron accumulation 5)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)