S48P (p.Ser48Pro) variant of CD28 (P10747)
S48P (p.Ser48Pro) in CD28 (P10747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S48P (p.Ser48Pro) variant details
- p.Ser48Pro
- gnomAD rs1422953731
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.10
- MetaLR 0.34
- MetaSVM -0.77
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available