L27S (p.Leu27Ser) variant of CASP8 (Caspase-8)
L27S (p.Leu27Ser) in CASP8 (Caspase-8) is a missense 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.
L27S (p.Leu27Ser) variant details
- p.Leu27Ser
- rs1185530380
- gnomAD 2-201258329-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.09
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available