W9* (p.Trp9Ter) variant of NF1 (Neurofibromin)
W9* (p.Trp9Ter) in NF1 (Neurofibromin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
W9* (p.Trp9Ter) variant details
- p.Trp9Ter
- rs2143144971
- ClinGen CA398979268
- ClinVar RCV001982890
- ClinVar RCV003222372
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.806
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)