D58G (p.Asp58Gly) variant of WRN (Q14191)
D58G (p.Asp58Gly) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D58G (p.Asp58Gly) variant details
- p.Asp58Gly
- rs2130005482
- ClinGen CA370912613
- ClinVar RCV003613680
- 1000Genomes rs2130005482
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.18
- CADD 23.60
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)