D5E (p.Asp5Glu) variant of MCM5 (P33992)
D5E (p.Asp5Glu) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D5E (p.Asp5Glu) variant details
- p.Asp5Glu
- gnomAD rs1477587333
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.21
- MetaLR 0.41
- MetaSVM -0.26
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available