W9L (p.Trp9Leu) variant of NF1 (Neurofibromin)
W9L (p.Trp9Leu) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
W9L (p.Trp9Leu) variant details
- p.Trp9Leu
- rs1567786829
- ClinGen CA398979262
- ClinVar RCV001337307
- Ensembl rs1567786829
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.24
- MetaLR 0.18
- MetaSVM -0.91
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)