S191L (p.Ser191Leu) variant of MSI1 (O43347)
S191L (p.Ser191Leu) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S191L (p.Ser191Leu) variant details
- p.Ser191Leu
- ESP rs375135447
- ExAC rs375135447
- TOPMed rs375135447
- gnomAD rs375135447
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.35
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available