A28S (p.Ala28Ser) variant of CD276 (CD276 antigen)
A28S (p.Ala28Ser) in CD276 (CD276 antigen) 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 0.30 / 1. The record also includes population frequency data and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- rs769865072
- ClinGen CA393095574
- ClinVar RCV004271973
- ExAC rs769865072
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.15
- CADD 23.30
- PolyPhen-2 0.69
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available