D22E (p.Asp22Glu) variant of MCM5 (P33992)
D22E (p.Asp22Glu) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
D22E (p.Asp22Glu) variant details
- p.Asp22Glu
- TOPMed rs1164779153
- gnomAD rs1164779153
- Missense
- Variant Prioritization Score for Impact Estimate 0.0626
- REVEL 0.01
- MetaLR 0.04
- MetaSVM -1.12
- CADD 1.03
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available