S40C (p.Ser40Cys) variant of MCM2 (P49736)
S40C (p.Ser40Cys) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S40C (p.Ser40Cys) variant details
- p.Ser40Cys
- gnomAD rs1378187591
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.26
- MetaLR 0.15
- MetaSVM -0.73
- CADD 26.60
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available