Q11P (p.Gln11Pro) variant of WRN (Q14191)
Q11P (p.Gln11Pro) 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 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
Q11P (p.Gln11Pro) variant details
- p.Gln11Pro
- rs1210013520
- ClinGen CA370912073
- ClinVar RCV000699537
- TOPMed rs1210013520
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0376
- REVEL 0.03
- CADD 0.11
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)