T156M (p.Thr156Met) variant of MSI1 (O43347)
T156M (p.Thr156Met) 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 0.82 / 1. The record also includes population frequency data and structural context.
T156M (p.Thr156Met) variant details
- p.Thr156Met
- ExAC rs767407412
- TOPMed rs767407412
- gnomAD rs767407412
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.86
- CADD 25.50
- PolyPhen-2 0.66
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available