R19E (p.Arg19Glu) variant of MCM2 (P49736)
R19E (p.Arg19Glu) in MCM2 (P49736) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R19E (p.Arg19Glu) variant details
- p.Arg19Glu
- rs1334001164
- gnomAD 3-127599363-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available