T47A (p.Thr47Ala) variant of CD80 (P33681)
T47A (p.Thr47Ala) 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 0.09 / 1. The record also includes population frequency data and structural context.
T47A (p.Thr47Ala) variant details
- p.Thr47Ala
- 1000Genomes rs183378805
- ESP rs183378805
- ExAC rs183378805
- TOPMed rs183378805
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0875
- REVEL 0.05
- MetaLR 0.11
- MetaSVM -1.02
- CADD 1.16
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.011)
- Structural context available