V7M (p.Val7Met) variant of NF1 (Neurofibromin)
V7M (p.Val7Met) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
V7M (p.Val7Met) variant details
- p.Val7Met
- rs1911552278
- ClinGen CA398979228
- ClinVar RCV001051473
- ClinVar RCV004559867
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- AlphaMissense 0.48
- MetaLR 0.05
- MetaSVM -1.12
- PolyPhen-2 0.85
- SIFT 0.44
- MutPred 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)