S38C (p.Ser38Cys) variant of WRN (Q14191)
S38C (p.Ser38Cys) in WRN (Q14191) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S38C (p.Ser38Cys) variant details
- p.Ser38Cys
- rs1812387319
- gnomAD 8-31059165-AAG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 32.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available