T127I (p.Thr127Ile) variant of MCM6 (Q14566)
T127I (p.Thr127Ile) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
T127I (p.Thr127Ile) variant details
- p.Thr127Ile
- TOPMed rs1398903284
- gnomAD rs1398903284
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.28
- CADD 23.50
- PolyPhen-2 0.64
- SIFT 0.07
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available