T121M (p.Thr121Met) variant of MSI1 (O43347)
T121M (p.Thr121Met) 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 0.84 / 1. The record also includes population frequency data and structural context.
T121M (p.Thr121Met) variant details
- p.Thr121Met
- rs149956156
- ESP rs149956156
- ExAC rs149956156
- TOPMed rs149956156
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.88
- CADD 27.70
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available