S56S (p.Ser56Ser) variant of WRN (Q14191)
S56S (p.Ser56Ser) in WRN (Q14191) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S56S (p.Ser56Ser) variant details
- p.Ser56Ser
- gnomAD 8-31059224-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 9.37
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available