T193M (p.Thr193Met) variant of MSI1 (O43347)
T193M (p.Thr193Met) in MSI1 (O43347) is a missense change. Clinical records from ClinVar, EBI, 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 0.50 / 1. The record also includes population frequency data and structural context.
T193M (p.Thr193Met) variant details
- p.Thr193Met
- rs768324684
- ClinGen CA6827713
- ClinVar RCV004299722
- ExAC rs768324684
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.38
- CADD 25.00
- PolyPhen-2 0.51
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available