E80G (p.Glu80Gly) variant of CD2 (T-cell surface antigen CD2)
E80G (p.Glu80Gly) 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 0.15 / 1. The record also includes population frequency data and structural context.
E80G (p.Glu80Gly) variant details
- p.Glu80Gly
- rs2526244194
- ClinGen CA341839783
- ClinVar RCV004365823
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.19
- MetaLR 0.06
- MetaSVM -0.59
- CADD 0.00
- PolyPhen-2 0.29
- SIFT 0.57
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available