S5S (p.Ser5Ser) variant of MSH6 (DNA mismatch repair protein Msh6)
S5S (p.Ser5Ser) in MSH6 (DNA mismatch repair protein Msh6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S5S (p.Ser5Ser) variant details
- p.Ser5Ser
- rs778036049
- gnomAD 2-47783248-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 13.90
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available