Q80L (p.Gln80Leu) variant of MSI1 (O43347)
Q80L (p.Gln80Leu) in MSI1 (O43347) 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 and structural context.
Q80L (p.Gln80Leu) variant details
- p.Gln80Leu
- ExAC rs752795681
- gnomAD rs752795681
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.26
- CADD 26.00
- PolyPhen-2 0.23
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available