S54F (p.Ser54Phe) variant of CD28 (P10747)
S54F (p.Ser54Phe) in CD28 (P10747) 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 0.65 / 1. The record also includes population frequency data and structural context.
S54F (p.Ser54Phe) variant details
- p.Ser54Phe
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.62
- MetaLR 0.69
- MetaSVM 0.46
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available