R47Q (p.Arg47Gln) variant of IKBKB (O14920)
R47Q (p.Arg47Gln) in IKBKB (O14920) 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 0.56 / 1. The record also includes population frequency data and structural context.
R47Q (p.Arg47Gln) variant details
- p.Arg47Gln
- rs1363685414
- TOPMed rs1363685414
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.36
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available