N20S (p.Asn20Ser) variant of WRN (Q14191)
N20S (p.Asn20Ser) 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 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
N20S (p.Asn20Ser) variant details
- p.Asn20Ser
- rs1554518179
- ClinGen CA370912194
- ClinVar RCV002043071
- Ensembl rs1554518179
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.09
- CADD 0.15
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)