p.Ser16dup variant of MSH3 (DNA mismatch repair protein Msh3)
p.Ser16dup in MSH3 (DNA mismatch repair protein Msh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser16dup variant details
- rs1254174829
- gnomAD 5-80654764-G-GCCT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.695
- CADD 10.20
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available