T46S (p.Thr46Ser) variant of MCM5 (P33992)
T46S (p.Thr46Ser) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T46S (p.Thr46Ser) variant details
- p.Thr46Ser
- gnomAD 22-35400574-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.29
- CADD 22.90
- PolyPhen-2 0.14
- SIFT 0.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available