D58N (p.Asp58Asn) variant of WRN (Q14191)
D58N (p.Asp58Asn) in WRN (Q14191) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ovarian cancer; Werner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
D58N (p.Asp58Asn) variant details
- p.Asp58Asn
- rs773803207
- ClinGen CA4703996
- NCI-TCGA Cosmic COSV5329
- NCI-TCGA Cosmic COSV9998
- Conflicting interpretations
- Ovarian cancer; Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.13
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Ovarian cancer; Werner syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement. (PMID 22964825)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)