L56F (p.Leu56Phe) variant of MCM2 (P49736)
L56F (p.Leu56Phe) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L56F (p.Leu56Phe) variant details
- p.Leu56Phe
- ExAC rs760296226
- gnomAD rs760296226
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.07
- MetaLR 0.15
- MetaSVM -0.95
- CADD 23.10
- PolyPhen-2 0.42
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available