R52W (p.Arg52Trp) variant of CD28 (P10747)
R52W (p.Arg52Trp) in CD28 (P10747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R52W (p.Arg52Trp) variant details
- p.Arg52Trp
- cosmic curated COSV10465
- ExAC rs781705879
- TOPMed rs781705879
- gnomAD rs781705879
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.72
- MetaLR 0.62
- MetaSVM 0.28
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available