Q26R (p.Gln26Arg) variant of FAS (P25445)
Q26R (p.Gln26Arg) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoimmune lymphoproliferative syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
Q26R (p.Gln26Arg) variant details
- p.Gln26Arg
- rs2133470846
- ClinGen CA377507409
- ClinVar RCV001913620
- Ensembl rs2133470846
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0683
- CADD 1.18
- PolyPhen-2 0.12
- SIFT 0.32
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)