V51M (p.Val51Met) variant of MSI1 (O43347)
V51M (p.Val51Met) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
V51M (p.Val51Met) variant details
- p.Val51Met
- ExAC rs746523102
- gnomAD rs746523102
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.84
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available