K33E (p.Lys33Glu) variant of FAS (P25445)
K33E (p.Lys33Glu) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K33E (p.Lys33Glu) variant details
- p.Lys33Glu
- rs55766344
- ClinGen CA211325393
- ClinVar RCV001344165
- TOPMed rs55766344
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- AlphaMissense 0.11
- MetaLR 0.77
- MetaSVM 0.03
- CADD 0.19
- PolyPhen-2 0.87
- SIFT 0.04
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)