E12Q (p.Glu12Gln) variant of CASP8 (Caspase-8)
E12Q (p.Glu12Gln) in CASP8 (Caspase-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E12Q (p.Glu12Gln) variant details
- p.Glu12Gln
- rs377242086
- gnomAD 2-201258265-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- CADD 16.20
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available