F17C (p.Phe17Cys) variant of NF1 (Neurofibromin)
F17C (p.Phe17Cys) 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 0.42 / 1. The record also includes published literature and structural context.
F17C (p.Phe17Cys) variant details
- p.Phe17Cys
- rs1911557433
- ClinGen CA398979388
- ClinVar RCV001326500
- Ensembl rs1911557433
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 0.99
- MetaLR 0.09
- MetaSVM -1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 17636453)