R36Q (p.Arg36Gln) variant of WRN (Q14191)
R36Q (p.Arg36Gln) in WRN (Q14191) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Wiskott-Aldrich syndrome; Werner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R36Q (p.Arg36Gln) variant details
- p.Arg36Gln
- rs34084741
- ClinGen CA162746
- ClinVar RCV000122289
- ClinVar RCV000733018
- Conflicting interpretations
- not provided; Wiskott-Aldrich syndrome; Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.02
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Wiskott-Aldrich syndrome; Werner syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)