S21C (p.Ser21Cys) variant of CASP8 (Caspase-8)
S21C (p.Ser21Cys) in CASP8 (Caspase-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S21C (p.Ser21Cys) variant details
- p.Ser21Cys
- gnomAD rs1182373153
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- CADD 23.90
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available