A5S (p.Ala5Ser) variant of MSI1 (O43347)
A5S (p.Ala5Ser) 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 0.26 / 1. The record also includes population frequency data and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- TOPMed rs1876225285
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.04
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.51
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available