S83S (p.Ser83Ser) variant of POLH (DNA polymerase eta)
S83S (p.Ser83Ser) in POLH (DNA polymerase eta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S83S (p.Ser83Ser) variant details
- p.Ser83Ser
- rs1295580401
- gnomAD 6-43583118-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 8.62
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available