R90Q (p.Arg90Gln) variant of CD80 (P33681)
R90Q (p.Arg90Gln) in CD80 (P33681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R90Q (p.Arg90Gln) variant details
- p.Arg90Gln
- ExAC rs757278848
- TOPMed rs757278848
- gnomAD rs757278848
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.40
- MetaLR 0.42
- MetaSVM 0.09
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available