H111R (p.His111Arg) variant of FAS (P25445)
H111R (p.His111Arg) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autoimmune lymphoproliferative syndrome type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
H111R (p.His111Arg) variant details
- p.His111Arg
- rs2133504109
- ClinGen CA377508448
- ClinVar RCV001884965
- ClinVar RCV004591621
- Pathogenic/Likely pathogenic
- Autoimmune lymphoproliferative syndrome type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.36
- MetaLR 0.24
- MetaSVM -0.68
- PolyPhen-2 0.52
- SIFT 0.03
- MutPred 0.58
- ClinVar: Pathogenic/Likely pathogenic (Autoimmune lymphoproliferative syndrome type 1; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)