E114V (p.Glu114Val) variant of FAS (P25445)
E114V (p.Glu114Val) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E114V (p.Glu114Val) variant details
- p.Glu114Val
- rs1435894576
- ClinGen CA377508523
- NCI-TCGA Cosmic COSV5824
- cosmic curated COSV58240
- Likely pathogenic
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 32.00
- ClinVar: Likely pathogenic (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)