R5Q (p.Arg5Gln) variant of CD80 (P33681)
R5Q (p.Arg5Gln) in CD80 (P33681) 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 0.07 / 1. The record also includes population frequency data and structural context.
R5Q (p.Arg5Gln) variant details
- p.Arg5Gln
- rs267599556
- 1000Genomes rs267599556
- ExAC rs267599556
- TOPMed rs267599556
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0723
- REVEL 0.01
- MetaLR 0.02
- MetaSVM -0.99
- CADD 3.44
- PolyPhen-2 0.13
- SIFT 0.50
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available