T13M (p.Thr13Met) variant of FAS (P25445)
T13M (p.Thr13Met) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T13M (p.Thr13Met) variant details
- p.Thr13Met
- rs372880667
- ClinGen CA5593020
- cosmic curated COSV10609
- ClinVar RCV001906205
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0853
- CADD 4.06
- PolyPhen-2 0.34
- SIFT 0.01
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 1; Inborn genetic d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00027)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)