p.Ser5 Ser7del variant of MCM2 (P49736)
p.Ser5 Ser7del in MCM2 (P49736) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser5 Ser7del variant details
- rs1326816597
- gnomAD 3-127599316-AGGAA
- Splice Acceptor
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 25.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available