Q15R (p.Gln15Arg) variant of CD28 (P10747)
Q15R (p.Gln15Arg) in CD28 (P10747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Q15R (p.Gln15Arg) variant details
- p.Gln15Arg
- rs199547990
- ClinGen CA63675931
- ClinVar RCV004433382
- TOPMed rs199547990
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.38
- MetaLR 0.50
- MetaSVM -0.58
- CADD 17.10
- PolyPhen-2 0.20
- SIFT 0.27
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available