D6E (p.Asp6Glu) variant of MCM5 (P33992)
D6E (p.Asp6Glu) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D6E (p.Asp6Glu) variant details
- p.Asp6Glu
- gnomAD 22-35400456-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.19
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.86
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available