R63C (p.Arg63Cys) variant of CD80 (P33681)
R63C (p.Arg63Cys) in CD80 (P33681) is a missense change. Clinical records from ClinVar 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 0.47 / 1. The record also includes population frequency data and structural context.
R63C (p.Arg63Cys) variant details
- p.Arg63Cys
- TOPMed rs1426836107
- gnomAD rs1426836107
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.47
- MetaLR 0.47
- MetaSVM -0.39
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available