A113T (p.Ala113Thr) variant of MCM6 (Q14566)
A113T (p.Ala113Thr) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A113T (p.Ala113Thr) variant details
- p.Ala113Thr
- ESP rs149573817
- ExAC rs149573817
- TOPMed rs149573817
- gnomAD rs149573817
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.20
- CADD 24.00
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available