M178I (p.Met178Ile) variant of MSI1 (O43347)
M178I (p.Met178Ile) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
M178I (p.Met178Ile) variant details
- p.Met178Ile
- ExAC rs769208022
- TOPMed rs769208022
- gnomAD rs769208022
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.68
- CADD 30.00
- PolyPhen-2 0.41
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available