T47M (p.Thr47Met) variant of CD80 (P33681)
T47M (p.Thr47Met) in CD80 (P33681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T47M (p.Thr47Met) variant details
- p.Thr47Met
- 1000Genomes rs201443429
- ESP rs201443429
- ExAC rs201443429
- TOPMed rs201443429
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.08
- MetaLR 0.16
- MetaSVM -0.90
- CADD 8.45
- PolyPhen-2 0.16
- SIFT 0.15
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available