D13N (p.Asp13Asn) variant of MCM5 (P33992)
D13N (p.Asp13Asn) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
D13N (p.Asp13Asn) variant details
- p.Asp13Asn
- 1000Genomes rs575116718
- TOPMed rs575116718
- gnomAD rs575116718
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.17
- MetaLR 0.28
- MetaSVM -0.49
- CADD 28.10
- SIFT 0.19
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available