Q71R (p.Gln71Arg) variant of MSI1 (O43347)
Q71R (p.Gln71Arg) 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 0.59 / 1. The record also includes population frequency data and structural context.
Q71R (p.Gln71Arg) variant details
- p.Gln71Arg
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.56
- CADD 25.90
- PolyPhen-2 0.36
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available