V122L (p.Val122Leu) variant of MSI1 (O43347)
V122L (p.Val122Leu) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V122L (p.Val122Leu) variant details
- p.Val122Leu
- TOPMed rs917973761
- gnomAD rs917973761
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.36
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.54
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available