E54K (p.Glu54Lys) variant of MCM2 (P49736)
E54K (p.Glu54Lys) 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 0.42 / 1. The record also includes population frequency data and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- rs771946607
- ClinGen CA83303800
- ClinVar RCV003870632
- TOPMed rs771946607
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.20
- MetaLR 0.20
- MetaSVM -0.62
- CADD 29.50
- PolyPhen-2 0.45
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available