S16R (p.Ser16Arg) variant of CASP8 (Caspase-8)
S16R (p.Ser16Arg) in CASP8 (Caspase-8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoimmune lymphoproliferative syndrome type 2B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
S16R (p.Ser16Arg) variant details
- p.Ser16Arg
- rs1401364865
- ClinGen CA350281341
- ClinVar RCV001953058
- TOPMed rs1401364865
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 7.95
- PolyPhen-2 0.46
- SIFT 0.17
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 2B)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available