L14Q (p.Leu14Gln) variant of CASP8 (Caspase-8)
L14Q (p.Leu14Gln) in CASP8 (Caspase-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L14Q (p.Leu14Gln) variant details
- p.Leu14Gln
- gnomAD 2-201266527-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available