R2H (p.Arg2His) variant of RUNX1 (Q01196)
R2H (p.Arg2His) in RUNX1 (Q01196) 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 0.74 / 1. The record also includes population frequency data and structural context.
R2H (p.Arg2His) variant details
- p.Arg2His
- rs769876579
- ExAC rs769876579
- gnomAD rs769876579
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 21.90
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available