L27V (p.Leu27Val) variant of CASP8 (Caspase-8)
L27V (p.Leu27Val) in CASP8 (Caspase-8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- gnomAD 2-201258325-GAGTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 21.80
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available