E50D (p.Glu50Asp) variant of MCM2 (P49736)
E50D (p.Glu50Asp) in MCM2 (P49736) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E50D (p.Glu50Asp) variant details
- p.Glu50Asp
- rs1352111513
- NCI-TCGA Cosmic COSV5403
- TOPMed rs1352111513
- gnomAD rs1352111513
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.24
- MetaLR 0.18
- MetaSVM -0.96
- CADD 23.70
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available