p.Ser29 Gln30del variant of MCM5 (P33992)
p.Ser29 Gln30del in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser29 Gln30del variant details
- gnomAD 22-35400523-TCGCA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.514
- CADD 22.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available