P16S (p.Pro16Ser) variant of MSI1 (O43347)
P16S (p.Pro16Ser) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P16S (p.Pro16Ser) variant details
- p.Pro16Ser
- TOPMed rs1876222984
- gnomAD rs1876222984
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.24
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available