L133F (p.Leu133Phe) variant of MCM6 (Q14566)
L133F (p.Leu133Phe) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L133F (p.Leu133Phe) variant details
- p.Leu133Phe
- gnomAD rs1249601475
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.05
- CADD 17.90
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available