R13W (p.Arg13Trp) variant of WRN (Q14191)
R13W (p.Arg13Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R13W (p.Arg13Trp) variant details
- p.Arg13Trp
- rs373503267
- ClinGen CA4703959
- ClinVar RCV000823112
- ESP rs373503267
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.16
- CADD 17.10
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)