S14N (p.Ser14Asn) variant of MCM5 (P33992)
S14N (p.Ser14Asn) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S14N (p.Ser14Asn) variant details
- p.Ser14Asn
- 1000Genomes rs557612451
- TOPMed rs557612451
- gnomAD rs557612451
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.14
- MetaLR 0.04
- MetaSVM -1.06
- CADD 22.50
- SIFT 1.00
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available