p.Ser31 Arg44del variant of MCM2 (P49736)
p.Ser31 Arg44del in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser31 Arg44del variant details
- rs754592078
- gnomAD 3-127599380-TCTCA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 21.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available