L38P (p.Leu38Pro) variant of MCM2 (P49736)
L38P (p.Leu38Pro) in MCM2 (P49736) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L38P (p.Leu38Pro) variant details
- p.Leu38Pro
- rs1559859642
- gnomAD 3-127599423-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 28.70
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available