N20K (p.Asn20Lys) variant of WRN (Q14191)
N20K (p.Asn20Lys) 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 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
N20K (p.Asn20Lys) variant details
- p.Asn20Lys
- rs1368830510
- ClinGen CA370912199
- ClinVar RCV000692009
- TOPMed rs1368830510
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0776
- REVEL 0.05
- CADD 1.35
- PolyPhen-2 0.01
- SIFT 0.18
- 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)