N23S (p.Asn23Ser) variant of WRN (Q14191)
N23S (p.Asn23Ser) 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 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
N23S (p.Asn23Ser) variant details
- p.Asn23Ser
- rs1332328134
- ClinGen CA370912232
- ClinVar RCV001043312
- gnomAD rs1332328134
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0979
- REVEL 0.05
- CADD 3.75
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00023)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)