D9G (p.Asp9Gly) variant of CASP8 (Caspase-8)
D9G (p.Asp9Gly) 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 0.11 / 1. The record also includes population frequency data and structural context.
D9G (p.Asp9Gly) variant details
- p.Asp9Gly
- rs1270676492
- ClinGen CA350281189
- ClinVar RCV001960144
- gnomAD rs1270676492
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- CADD 6.37
- PolyPhen-2 0.01
- SIFT 0.28
- 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 4.8e-05)
- Structural context available