P8L (p.Pro8Leu) variant of MSI1 (O43347)
P8L (p.Pro8Leu) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- TOPMed rs945870488
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.03
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available