T28M (p.Thr28Met) variant of CD2 (T-cell surface antigen CD2)
T28M (p.Thr28Met) in CD2 (T-cell surface antigen CD2) is a missense change. Clinical records from ClinVar, EBI, 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 0.16 / 1. The record also includes population frequency data and structural context.
T28M (p.Thr28Met) variant details
- p.Thr28Met
- rs369310866
- ClinGen CA1027027
- cosmic curated COSV65643
- ClinVar RCV004227436
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.21
- MetaLR 0.10
- MetaSVM -0.98
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available