L42E (p.Leu42Glu) variant of CASP8 (Caspase-8)
L42E (p.Leu42Glu) in CASP8 (Caspase-8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L42E (p.Leu42Glu) variant details
- p.Leu42Glu
- gnomAD 2-201266607-GCCTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.361
- CADD 28.80
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available