R36W (p.Arg36Trp) variant of WRN (Q14191)
R36W (p.Arg36Trp) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R36W (p.Arg36Trp) variant details
- p.Arg36Trp
- rs141495269
- ClinGen CA4703985
- ClinVar RCV000228744
- ESP rs141495269
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.10
- CADD 23.10
- PolyPhen-2 0.24
- SIFT 0.00
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)