L42L (p.Leu42Leu) variant of CASP8 (Caspase-8)
L42L (p.Leu42Leu) in CASP8 (Caspase-8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L42L (p.Leu42Leu) variant details
- p.Leu42Leu
- rs1270927174
- gnomAD 2-201258339-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 4.51
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available