S574T (p.Ser574Thr) variant of NF1 (Neurofibromin)
S574T (p.Ser574Thr) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Hereditary cancer-predisposing syndrome; Neurofibromat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
S574T (p.Ser574Thr) variant details
- p.Ser574Thr
- rs1555613206
- ClinGen CA399002389
- cosmic curated COSV62197
- ClinVar RCV003494709
- Pathogenic
- Cardiovascular phenotype; Hereditary cancer-predisposing syndrome; Neurofibromat
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- AlphaMissense 0.39
- MetaLR 0.47
- MetaSVM -0.09
- SIFT 0.00
- MutPred 0.44
- ClinVar: Pathogenic (Cardiovascular phenotype; Hereditary cancer-predisposing syndrom)
- EBI: Pathogenic (in NF1)
- UniProt: Pathogenic (in NF1)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)