N6T (p.Asn6Thr) variant of CASP8 (Caspase-8)
N6T (p.Asn6Thr) in CASP8 (Caspase-8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
N6T (p.Asn6Thr) variant details
- p.Asn6Thr
- gnomAD 2-201258275-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 0.48
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available