D47N (p.Asp47Asn) variant of MCM5 (P33992)
D47N (p.Asp47Asn) 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.
D47N (p.Asp47Asn) variant details
- p.Asp47Asn
- gnomAD 22-35400577-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.18
- CADD 23.60
- PolyPhen-2 0.62
- SIFT 0.86
- Population evidence available
- Structural context available
- Literature evidence available