E67K (p.Glu67Lys) variant of MCM5 (P33992)
E67K (p.Glu67Lys) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E67K (p.Glu67Lys) variant details
- p.Glu67Lys
- gnomAD 22-35403238-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.24
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available