D18N (p.Asp18Asn) variant of MCM5 (P33992)
D18N (p.Asp18Asn) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- gnomAD 22-35400490-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.13
- CADD 25.60
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available