E37K (p.Glu37Lys) variant of MCM5 (P33992)
E37K (p.Glu37Lys) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- gnomAD rs1241732679
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.34
- MetaLR 0.05
- MetaSVM -1.12
- CADD 27.50
- PolyPhen-2 0.45
- SIFT 0.37
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available