R13C (p.Arg13Cys) variant of WDR45 (Q9Y484)
R13C (p.Arg13Cys) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; Neurodegeneration with brain iron accumulation 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- rs782798113
- ClinGen CA10408643
- ClinVar RCV001501204
- ClinVar RCV004037422
- Likely benign
- Inborn genetic diseases; Neurodegeneration with brain iron accumulation 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.20
- CADD 25.30
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Likely benign (Inborn genetic diseases; Neurodegeneration with brain iron accum)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3.2e-05)
- 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)