C50R (p.Cys50Arg) variant of CD80 (P33681)
C50R (p.Cys50Arg) in CD80 (P33681) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
C50R (p.Cys50Arg) variant details
- p.Cys50Arg
- NCI-TCGA Cosmic COSV9995
- cosmic curated COSV99958
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.66
- MetaLR 0.57
- MetaSVM 0.28
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available