E58Q (p.Glu58Gln) variant of CD80 (P33681)
E58Q (p.Glu58Gln) in CD80 (P33681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E58Q (p.Glu58Gln) variant details
- p.Glu58Gln
- TOPMed rs2082190989
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.21
- MetaLR 0.27
- MetaSVM -0.72
- CADD 18.00
- PolyPhen-2 0.64
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available