R13Q (p.Arg13Gln) variant of WRN (Q14191)
R13Q (p.Arg13Gln) in WRN (Q14191) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Werner syndrome; Inborn genetic diseases. 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.
R13Q (p.Arg13Gln) variant details
- p.Arg13Gln
- rs1006884728
- ClinGen CA174838762
- NCI-TCGA Cosmic COSV5329
- ClinVar RCV001071384
- Uncertain significance
- Werner syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.14
- CADD 23.60
- PolyPhen-2 0.47
- SIFT 0.02
- ClinVar: Uncertain significance (Werner syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-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)