D71Y (p.Asp71Tyr) variant of CD3E (P07766)
D71Y (p.Asp71Tyr) in CD3E (P07766) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
D71Y (p.Asp71Tyr) variant details
- p.Asp71Tyr
- 1000Genomes rs148647954
- ESP rs148647954
- ExAC rs148647954
- TOPMed rs148647954
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0911
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.00
- CADD 0.39
- PolyPhen-2 0.06
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available