S12F (p.Ser12Phe) variant of MCM2 (P49736)
S12F (p.Ser12Phe) 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.
S12F (p.Ser12Phe) variant details
- p.Ser12Phe
- gnomAD 3-127599346-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -0.94
- CADD 23.40
- PolyPhen-2 0.35
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available