C49R (p.Cys49Arg) variant of CD276 (CD276 antigen)
C49R (p.Cys49Arg) in CD276 (CD276 antigen) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
C49R (p.Cys49Arg) variant details
- p.Cys49Arg
- ExAC rs763766438
- TOPMed rs763766438
- gnomAD rs763766438
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.17
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available