T34H (p.Thr34His) variant of CD3E (P07766)
T34H (p.Thr34His) in CD3E (P07766) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T34H (p.Thr34His) variant details
- p.Thr34His
- rs1948139048
- gnomAD 11-118312165-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 8.91
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available