L21I (p.Leu21Ile) variant of NF1 (Neurofibromin)
L21I (p.Leu21Ile) 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 0.40 / 1. The record also includes published literature and structural context.
L21I (p.Leu21Ile) variant details
- p.Leu21Ile
- rs779453629
- ClinGen CA398988008
- ClinVar RCV002366443
- ExAC rs779453629
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- AlphaMissense 0.85
- MetaLR 0.18
- MetaSVM -0.82
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.58
- 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)