Q30Q (p.Gln30Gln) variant of MCM5 (P33992)
Q30Q (p.Gln30Gln) in MCM5 (P33992) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q30Q (p.Gln30Gln) variant details
- p.Gln30Gln
- rs1601749372
- gnomAD 22-35400528-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.438
- CADD 13.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available