V122M (p.Val122Met) variant of MSI1 (O43347)
V122M (p.Val122Met) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
V122M (p.Val122Met) variant details
- p.Val122Met
- TOPMed rs917973761
- gnomAD rs917973761
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.54
- CADD 24.80
- PolyPhen-2 0.69
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available