I23L (p.Ile23Leu) variant of NF1 (Neurofibromin)
I23L (p.Ile23Leu) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes variant effect predictions and structural context.
I23L (p.Ile23Leu) variant details
- p.Ile23Leu
- cosmic curated COSV62197
- 1000Genomes rs542824372
- ExAC rs542824372
- TOPMed rs542824372
- Benign
- Missense
- MetaLR 0.06
- MetaSVM -1.13
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Structural context available