S14C (p.Ser14Cys) variant of MCM5 (P33992)
S14C (p.Ser14Cys) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S14C (p.Ser14Cys) variant details
- p.Ser14Cys
- 1000Genomes rs537676845
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.23
- MetaLR 0.14
- MetaSVM -0.92
- CADD 26.20
- SIFT 0.05
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available