M52I (p.Met52Ile) variant of MSI1 (O43347)
M52I (p.Met52Ile) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
M52I (p.Met52Ile) variant details
- p.Met52Ile
- gnomAD rs1244738754
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.76
- CADD 26.00
- PolyPhen-2 0.90
- SIFT 0.01
- Population evidence available
- Structural context available