M141I (p.Met141Ile) variant of MSI1 (O43347)
M141I (p.Met141Ile) 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 0.74 / 1. The record also includes population frequency data and structural context.
M141I (p.Met141Ile) variant details
- p.Met141Ile
- ExAC rs778613474
- TOPMed rs778613474
- gnomAD rs778613474
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.73
- CADD 23.90
- PolyPhen-2 0.29
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available