D43G (p.Asp43Gly) variant of WRN (Q14191)
D43G (p.Asp43Gly) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
D43G (p.Asp43Gly) variant details
- p.Asp43Gly
- rs1394481064
- ClinGen CA370912429
- ClinVar RCV001919123
- Ensembl rs1394481064
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.03
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.63
- 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)