S54Y (p.Ser54Tyr) variant of CD28 (P10747)
S54Y (p.Ser54Tyr) in CD28 (P10747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S54Y (p.Ser54Tyr) variant details
- p.Ser54Tyr
- gnomAD rs1457896779
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.58
- MetaLR 0.69
- MetaSVM 0.46
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available