D116N (p.Asp116Asn) variant of MCM6 (Q14566)
D116N (p.Asp116Asn) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D116N (p.Asp116Asn) variant details
- p.Asp116Asn
- gnomAD rs1262210598
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.17
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.60
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available