V163M (p.Val163Met) variant of MSI1 (O43347)
V163M (p.Val163Met) 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 0.72 / 1. The record also includes population frequency data and structural context.
V163M (p.Val163Met) variant details
- p.Val163Met
- rs1270520592
- TOPMed rs1270520592
- gnomAD rs1270520592
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.67
- CADD 25.80
- PolyPhen-2 0.93
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available