I259T (p.Ile259Thr) variant of FAS (P25445)
I259T (p.Ile259Thr) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autoimmune lymphoproliferative syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
I259T (p.Ile259Thr) variant details
- p.Ile259Thr
- rs1848675068
- ClinGen CA377509786
- cosmic curated COSV58240
- ClinVar RCV001067019
- Likely pathogenic
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Likely pathogenic (in ALPS1A)
- UniProt: Likely pathogenic (in ALPS1A)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)