T28A (p.Thr28Ala) variant of FAS (P25445)
T28A (p.Thr28Ala) in FAS (P25445) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ALPS1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T28A (p.Thr28Ala) variant details
- p.Thr28Ala
- UniProt VAR 013417
- Pathogenic
- in ALPS1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 4.95
- EBI: Pathogenic (in ALPS1A)
- UniProt: Pathogenic (in ALPS1A)
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis. (PMID 9322534)
- Cited in: Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. (PMID 10090885)