N20D (p.Asn20Asp) variant of WRN (Q14191)
N20D (p.Asn20Asp) in WRN (Q14191) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Werner syndrome; not specified. 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.
N20D (p.Asn20Asp) variant details
- p.Asn20Asp
- rs1233624462
- ClinGen CA370912190
- ClinVar RCV001373798
- ClinVar RCV002246348
- Conflicting interpretations
- Werner syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.05
- CADD 4.61
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (Werner syndrome; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)