R250Q (p.Arg250Gln) variant of FAS (P25445)
R250Q (p.Arg250Gln) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autoimmune lymphoproliferative syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R250Q (p.Arg250Gln) variant details
- p.Arg250Gln
- rs121913080
- ClinGen CA377509711
- cosmic curated COSV58238
- ClinVar RCV001382235
- Pathogenic/Likely pathogenic
- not provided; Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.05
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autoimmune lymphoproliferative syndrome type 1)
- EBI: Pathogenic (in ALPS1A)
- UniProt: Pathogenic (in ALPS1A)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. (PMID 10090885)
- Cited in: The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations. (PMID 20935634)