S52S (p.Ser52Ser) variant of WRN (Q14191)
S52S (p.Ser52Ser) in WRN (Q14191) is a synonymous change. 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.
S52S (p.Ser52Ser) variant details
- p.Ser52Ser
- rs1812390404
- gnomAD 8-31059212-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.82
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available