W9C (p.Trp9Cys) variant of NF1 (Neurofibromin)
W9C (p.Trp9Cys) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurofibromatosis, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
W9C (p.Trp9Cys) variant details
- p.Trp9Cys
- rs2143144971
- ClinGen CA398979270
- ClinVar RCV003599682
- Ensembl rs2143144971
- Uncertain significance
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.42
- MetaLR 0.19
- MetaSVM -0.81
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Neurofibromatosis, type 1)
- 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)