R5W (p.Arg5Trp) variant of CD276 (CD276 antigen)
R5W (p.Arg5Trp) 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 0.07 / 1. The record also includes population frequency data and structural context.
R5W (p.Arg5Trp) variant details
- p.Arg5Trp
- cosmic curated COSV10964
- ExAC rs563669074
- TOPMed rs563669074
- gnomAD rs563669074
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0689
- REVEL 0.05
- CADD 5.36
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available