D81E (p.Asp81Glu) variant of CD7 (T-cell antigen CD7)
D81E (p.Asp81Glu) in CD7 (T-cell antigen CD7) 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 0.12 / 1. The record also includes population frequency data.
D81E (p.Asp81Glu) variant details
- p.Asp81Glu
- rs754450176
- ClinGen CA8856018
- ClinVar RCV004191282
- ExAC rs754450176
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.09
- CADD 13.40
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)