T83I (p.Thr83Ile) variant of CD2 (T-cell surface antigen CD2)
T83I (p.Thr83Ile) in CD2 (T-cell surface antigen CD2) 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 0.14 / 1. The record also includes population frequency data and structural context.
T83I (p.Thr83Ile) variant details
- p.Thr83Ile
- ExAC rs759876441
- TOPMed rs759876441
- gnomAD rs759876441
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.14
- MetaLR 0.16
- MetaSVM -0.87
- CADD 1.99
- PolyPhen-2 0.73
- SIFT 0.16
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available