V189M (p.Val189Met) variant of MSI1 (O43347)
V189M (p.Val189Met) in MSI1 (O43347) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
V189M (p.Val189Met) variant details
- p.Val189Met
- NCI-TCGA Cosmic COSV9998
- TOPMed rs1166807366
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.60
- CADD 26.70
- PolyPhen-2 0.77
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available