I70S (p.Ile70Ser) variant of MCM5 (P33992)
I70S (p.Ile70Ser) in MCM5 (P33992) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
I70S (p.Ile70Ser) variant details
- p.Ile70Ser
- rs1173639492
- gnomAD 22-35401382-CATTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.203
- CADD 3.52
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available