R59H (p.Arg59His) variant of WDR45 (Q9Y484)
R59H (p.Arg59His) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R59H (p.Arg59His) variant details
- p.Arg59His
- rs1557084469
- ClinGen CA412949163
- cosmic curated COSV59875
- ClinVar RCV002902385
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.48
- AlphaMissense 1.00
- MetaLR 0.71
- MetaSVM 0.61
- CADD 26.70
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.9e-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)