P45A (p.Pro45Ala) variant of WRN (Q14191)
P45A (p.Pro45Ala) 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 record also includes variant effect predictions, published literature, and structural context.
P45A (p.Pro45Ala) variant details
- p.Pro45Ala
- rs1318227760
- ClinGen CA370912447
- ClinVar RCV002305384
- Uncertain significance
- Werner syndrome
- Missense
- MutPred 0.37
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)