R52Q (p.Arg52Gln) variant of CD28 (P10747)
R52Q (p.Arg52Gln) in CD28 (P10747) 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.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- rs1179953211
- NCI-TCGA Cosmic COSV6073
- cosmic curated COSV60731
- TOPMed rs1179953211
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.51
- MetaLR 0.44
- MetaSVM -0.34
- CADD 22.70
- PolyPhen-2 0.68
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available