I23V (p.Ile23Val) variant of NF1 (Neurofibromin)
I23V (p.Ile23Val) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
I23V (p.Ile23Val) variant details
- p.Ile23Val
- rs542824372
- ClinGen CA8485473
- ClinVar RCV000460803
- ClinVar RCV001797086
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.16
- MetaLR 0.04
- MetaSVM -1.10
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.34
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- 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: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)