M139R (p.Met139Arg) variant of MSI1 (O43347)
M139R (p.Met139Arg) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
M139R (p.Met139Arg) variant details
- p.Met139Arg
- TOPMed rs1159858509
- gnomAD rs1159858509
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.64
- CADD 27.40
- PolyPhen-2 0.56
- SIFT 0.01
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available