S5P (p.Ser5Pro) variant of MCM2 (P49736)
S5P (p.Ser5Pro) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- ExAC rs779411453
- gnomAD rs779411453
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.20
- MetaLR 0.01
- MetaSVM -0.85
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available