H62L (p.His62Leu) variant of MCM5 (P33992)
H62L (p.His62Leu) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
H62L (p.His62Leu) variant details
- p.His62Leu
- gnomAD 22-35401394-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0894
- CADD 1.23
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available