R4Q (p.Arg4Gln) variant of CD276 (CD276 antigen)
R4Q (p.Arg4Gln) in CD276 (CD276 antigen) 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 0.05 / 1. The record also includes population frequency data and structural context.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- NCI-TCGA TCGA novel
- TOPMed rs1232227175
- gnomAD rs1232227175
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0532
- REVEL 0.02
- CADD 5.34
- PolyPhen-2 0.00
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available