G253V (p.Gly253Val) variant of FAS (P25445)
G253V (p.Gly253Val) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.65 / 1. The record also includes published literature and structural context.
G253V (p.Gly253Val) variant details
- p.Gly253Val
- rs1848671126
- ClinGen CA377509733
- ClinVar RCV001070775
- ClinVar RCV006250931
- Likely pathogenic
- Autoimmune lymphoproliferative syndrome type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- AlphaMissense 0.60
- MetaLR 0.76
- MetaSVM 0.01
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.65
- ClinVar: Likely pathogenic (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Pathogenic (in ALPS1A)
- UniProt: Pathogenic (in ALPS1A)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)