L7P (p.Leu7Pro) variant of FAS (P25445)
L7P (p.Leu7Pro) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Autoimmune lymphoproliferative syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- rs2133384423
- ClinGen CA377505811
- NCI-TCGA Cosmic COSV5824
- cosmic curated COSV58240
- Likely pathogenic
- not provided; Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 23.10
- PolyPhen-2 0.46
- SIFT 0.04
- ClinVar: Likely pathogenic (not provided; Autoimmune lymphoproliferative syndrome type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)