A59S (p.Ala59Ser) variant of WRN (Q14191)
A59S (p.Ala59Ser) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A59S (p.Ala59Ser) variant details
- p.Ala59Ser
- rs1460186288
- ClinGen CA370912627
- ClinVar RCV001220991
- gnomAD rs1460186288
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.04
- CADD 17.80
- PolyPhen-2 0.19
- SIFT 0.08
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)