T46P (p.Thr46Pro) variant of FAS (P25445)
T46P (p.Thr46Pro) 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 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
T46P (p.Thr46Pro) variant details
- p.Thr46Pro
- rs1286527065
- ClinGen CA377507577
- ClinVar RCV003635021
- gnomAD rs1286527065
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0509
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)