V13L (p.Val13Leu) variant of NF1 (Neurofibromin)
V13L (p.Val13Leu) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- rs1060500261
- ClinGen CA398979315
- ClinVar RCV002319282
- 1000Genomes rs1060500261
- Uncertain significance
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.12
- MetaLR 0.01
- MetaSVM -1.00
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Neurofibromatosis, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)