L21H (p.Leu21His) variant of NF1 (Neurofibromin)
L21H (p.Leu21His) 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 0.45 / 1. The record also includes published literature and structural context.
L21H (p.Leu21His) variant details
- p.Leu21His
- rs1567814403
- ClinGen CA398988016
- ClinVar RCV002038708
- ClinVar RCV004558816
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- AlphaMissense 1.00
- MetaLR 0.17
- MetaSVM -0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- 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)