S51C (p.Ser51Cys) variant of CD276 (CD276 antigen)
S51C (p.Ser51Cys) in CD276 (CD276 antigen) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S51C (p.Ser51Cys) variant details
- p.Ser51Cys
- ESP rs370507291
- ExAC rs370507291
- TOPMed rs370507291
- gnomAD rs370507291
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.33
- CADD 24.60
- PolyPhen-2 0.95
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available