R5W (p.Arg5Trp) variant of CD80 (P33681)
R5W (p.Arg5Trp) in CD80 (P33681) 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 0.13 / 1. The record also includes population frequency data and structural context.
R5W (p.Arg5Trp) variant details
- p.Arg5Trp
- ExAC rs753619011
- TOPMed rs753619011
- gnomAD rs753619011
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.10
- MetaLR 0.03
- MetaSVM -1.01
- CADD 10.30
- PolyPhen-2 0.78
- SIFT 0.11
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00036)
- Structural context available