p.Asp51 Glu52del variant of MCM2 (P49736)
p.Asp51 Glu52del in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
p.Asp51 Glu52del variant details
- rs780508768
- gnomAD 3-127599457-TTGAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.602
- CADD 22.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available