S129Y (p.Ser129Tyr) variant of MCM6 (Q14566)
S129Y (p.Ser129Tyr) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S129Y (p.Ser129Tyr) variant details
- p.Ser129Tyr
- TOPMed rs1680147792
- gnomAD rs1680147792
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.13
- CADD 23.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available