A184S (p.Ala184Ser) variant of MSI1 (O43347)
A184S (p.Ala184Ser) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
A184S (p.Ala184Ser) variant details
- p.Ala184Ser
- ExAC rs746446964
- gnomAD rs746446964
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.77
- CADD 24.30
- PolyPhen-2 0.39
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available