S2* (p.Ser2Ter) variant of MCM5 (P33992)
S2* (p.Ser2Ter) in MCM5 (P33992) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S2* (p.Ser2Ter) variant details
- p.Ser2Ter
- gnomAD 22-35400443-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.877
- CADD 47.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available