M1I (p.Met1Ile) variant of MCM2 (P49736)
M1I (p.Met1Ile) in MCM2 (P49736) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1439380101
- ClinGen CA354379151
- ClinVar RCV003856052
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- MetaLR 0.01
- MetaSVM -0.94
- PolyPhen-2 0.01
- SIFT 0.03
- MutPred 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available