L134F (p.Leu134Phe) variant of MCM6 (Q14566)
L134F (p.Leu134Phe) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L134F (p.Leu134Phe) variant details
- p.Leu134Phe
- ExAC rs780852550
- gnomAD rs780852550
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.40
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available