P118L (p.Pro118Leu) variant of MCM6 (Q14566)
P118L (p.Pro118Leu) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P118L (p.Pro118Leu) variant details
- p.Pro118Leu
- ExAC rs774949484
- gnomAD rs774949484
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.32
- CADD 25.30
- PolyPhen-2 0.37
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available