L19V (p.Leu19Val) variant of CASP8 (Caspase-8)
L19V (p.Leu19Val) in CASP8 (Caspase-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- gnomAD 2-201258286-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 7.09
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available