D55E (p.Asp55Glu) variant of CD2 (T-cell surface antigen CD2)
D55E (p.Asp55Glu) 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 0.06 / 1. The record also includes population frequency data and structural context.
D55E (p.Asp55Glu) variant details
- p.Asp55Glu
- ESP rs143289040
- ExAC rs143289040
- TOPMed rs143289040
- gnomAD rs143289040
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0605
- REVEL 0.02
- MetaLR 0.01
- MetaSVM -1.09
- CADD 0.00
- PolyPhen-2 0.14
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available