D260G (p.Asp260Gly) variant of FAS (P25445)
D260G (p.Asp260Gly) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autoimmune lymphoproliferative syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
D260G (p.Asp260Gly) variant details
- p.Asp260Gly
- rs28929498
- ClinGen CA377509791
- ClinVar RCV003037351
- UniProt VAR 013429
- Pathogenic
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- AlphaMissense 0.82
- MetaLR 0.90
- MetaSVM 1.10
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Pathogenic (in ALPS1A)
- UniProt: Pathogenic (in ALPS1A)
- Population evidence available
- Structural context available
- Cited in: The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. (PMID 9927496)
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)