A2E (p.Ala2Glu) variant of MCM2 (P49736)
A2E (p.Ala2Glu) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- rs1247401070
- ClinGen CA354379177
- ClinVar RCV002021143
- ClinVar RCV006287592
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.17
- MetaLR 0.02
- MetaSVM -0.93
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available