G247A (p.Gly247Ala) variant of FAS (P25445)
G247A (p.Gly247Ala) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FAS-related autoimmune lymphoproliferative syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
G247A (p.Gly247Ala) variant details
- p.Gly247Ala
- rs121913085
- ClinGen CA126602
- ClinVar RCV000017977
- Ensembl rs121913085
- Pathogenic
- FAS-related autoimmune lymphoproliferative syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- AlphaMissense 0.07
- MetaLR 0.20
- MetaSVM -0.79
- PolyPhen-2 0.00
- SIFT 0.52
- MutPred 0.45
- ClinVar: Pathogenic (FAS-related autoimmune lymphoproliferative syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. (PMID 10200300)