F17S (p.Phe17Ser) variant of NF1 (Neurofibromin)
F17S (p.Phe17Ser) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
F17S (p.Phe17Ser) variant details
- p.Phe17Ser
- rs1911557433
- ClinGen CA398979385
- ClinVar RCV002227922
- ClinVar RCV002337412
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.38
- AlphaMissense 0.99
- MetaLR 0.09
- MetaSVM -1.09
- CADD 28.70
- PolyPhen-2 1.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- 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)