G11Q (p.Gly11Gln) variant of CASP8 (Caspase-8)
G11Q (p.Gly11Gln) 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.
G11Q (p.Gly11Gln) variant details
- p.Gly11Gln
- rs1947134021
- gnomAD 2-201258329-TAG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available