P31L (p.Pro31Leu) variant of CASP8 (Caspase-8)
P31L (p.Pro31Leu) 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 0.57 / 1. The record also includes population frequency data and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- rs748087575
- ClinGen CA2053443
- NCI-TCGA Cosmic COSV5184
- cosmic curated COSV51847
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 20.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 2B)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available