T13K (p.Thr13Lys) variant of FAS (P25445)
T13K (p.Thr13Lys) 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 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
T13K (p.Thr13Lys) variant details
- p.Thr13Lys
- rs372880667
- ClinGen CA377507258
- ClinVar RCV003028505
- ESP rs372880667
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0578
- CADD 0.34
- PolyPhen-2 0.41
- SIFT 0.09
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)