A11S (p.Ala11Ser) variant of MSI1 (O43347)
A11S (p.Ala11Ser) in MSI1 (O43347) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- TOPMed rs1188321039
- gnomAD rs1188321039
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.05
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.96
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available