D68N (p.Asp68Asn) variant of MCM2 (P49736)
D68N (p.Asp68Asn) in MCM2 (P49736) 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 and structural context.
D68N (p.Asp68Asn) variant details
- p.Asp68Asn
- gnomAD rs775184023
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.13
- MetaLR 0.10
- MetaSVM -1.06
- CADD 24.30
- PolyPhen-2 0.44
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available