T241K (p.Thr241Lys) variant of FAS (P25445)
T241K (p.Thr241Lys) 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 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
T241K (p.Thr241Lys) variant details
- p.Thr241Lys
- rs201072885
- ClinGen CA5593211
- ClinVar RCV003518771
- UniProt VAR 013424
- Pathogenic
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0612
- CADD 0.08
- PolyPhen-2 0.03
- SIFT 0.42
- ClinVar: Pathogenic (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Pathogenic (in ALPS1A)
- UniProt: Pathogenic (in ALPS1A)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00023)
- Structural context available
- Cited in: Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. (PMID 10090885)
- Cited in: Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative… (PMID 10340403)