S12Y (p.Ser12Tyr) variant of MCM2 (P49736)
S12Y (p.Ser12Tyr) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S12Y (p.Ser12Tyr) variant details
- p.Ser12Tyr
- gnomAD 3-127599346-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -0.93
- CADD 23.00
- PolyPhen-2 0.35
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available