L46F (p.Leu46Phe) variant of MCM2 (P49736)
L46F (p.Leu46Phe) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L46F (p.Leu46Phe) variant details
- p.Leu46Phe
- Ensembl rs2074290060
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.15
- MetaLR 0.06
- MetaSVM -1.09
- CADD 21.50
- PolyPhen-2 0.05
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available