R59K (p.Arg59Lys) variant of MSI1 (O43347)
R59K (p.Arg59Lys) 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 0.47 / 1. The record also includes population frequency data and structural context.
R59K (p.Arg59Lys) variant details
- p.Arg59Lys
- rs1206220387
- gnomAD rs1206220387
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.31
- CADD 27.90
- PolyPhen-2 0.85
- 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