S31I (p.Ser31Ile) variant of MCM2 (P49736)
S31I (p.Ser31Ile) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S31I (p.Ser31Ile) variant details
- p.Ser31Ile
- ExAC rs755366699
- TOPMed rs755366699
- gnomAD rs755366699
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.08
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00085)
- Structural context available