K263N (p.Lys263Asn) variant of FAS (P25445)
K263N (p.Lys263Asn) 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 0.71 / 1. The record also includes published literature and structural context.
K263N (p.Lys263Asn) variant details
- p.Lys263Asn
- rs2119446096
- ClinGen CA377509814
- ClinVar RCV002262183
- Ensembl rs2119446096
- Likely pathogenic
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- AlphaMissense 0.68
- MetaLR 0.73
- MetaSVM 0.40
- PolyPhen-2 1.00
- SIFT 0.07
- MutPred 0.51
- ClinVar: Likely pathogenic (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)