E158Q (p.Glu158Gln) variant of MSI1 (O43347)
E158Q (p.Glu158Gln) 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 0.70 / 1. The record also includes population frequency data and structural context.
E158Q (p.Glu158Gln) variant details
- p.Glu158Gln
- TOPMed rs1875273448
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.67
- CADD 22.70
- PolyPhen-2 0.49
- SIFT 0.20
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available