Y52F (p.Tyr52Phe) variant of CD3E (P07766)
Y52F (p.Tyr52Phe) in CD3E (P07766) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
Y52F (p.Tyr52Phe) variant details
- p.Tyr52Phe
- TOPMed rs1373611207
- gnomAD rs1373611207
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.05
- MetaLR 0.11
- MetaSVM -1.00
- CADD 7.34
- PolyPhen-2 0.04
- SIFT 0.75
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available