S27I (p.Ser27Ile) variant of MCM2 (P49736)
S27I (p.Ser27Ile) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S27I (p.Ser27Ile) variant details
- p.Ser27Ile
- gnomAD rs1203986622
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.24
- MetaLR 0.16
- MetaSVM -0.75
- CADD 30.00
- PolyPhen-2 0.94
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available