S47F (p.Ser47Phe) variant of NF1 (Neurofibromin)
S47F (p.Ser47Phe) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurofibromatosis, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
S47F (p.Ser47Phe) variant details
- p.Ser47Phe
- rs1401356668
- ClinGen CA398988443
- NCI-TCGA Cosmic COSV6221
- cosmic curated COSV62217
- Likely pathogenic
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 1.00
- MetaLR 0.19
- MetaSVM -0.72
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Neurofibromatosis, type 1)
- 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)