P14S (p.Pro14Ser) variant of MCM2 (P49736)
P14S (p.Pro14Ser) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- ExAC rs778688260
- TOPMed rs778688260
- gnomAD rs778688260
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.18
- MetaLR 0.18
- MetaSVM -0.89
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available