I23M (p.Ile23Met) variant of NF1 (Neurofibromin)
I23M (p.Ile23Met) 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 population frequency data, published literature, and structural context.
I23M (p.Ile23Met) variant details
- p.Ile23Met
- rs1555604870
- ClinGen CA398988068
- ClinVar RCV002316651
- ClinVar RCV002528015
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.13
- MetaLR 0.05
- MetaSVM -1.14
- CADD 16.80
- PolyPhen-2 0.04
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)