L27Q (p.Leu27Gln) variant of CASP8 (Caspase-8)
L27Q (p.Leu27Gln) in CASP8 (Caspase-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L27Q (p.Leu27Gln) variant details
- p.Leu27Gln
- ExAC rs768253756
- gnomAD rs768253756
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 21.20
- PolyPhen-2 0.31
- SIFT 0.06
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available