L145P (p.Leu145Pro) variant of NF1 (Neurofibromin)
L145P (p.Leu145Pro) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurofibromatosis, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
L145P (p.Leu145Pro) variant details
- p.Leu145Pro
- rs199474734
- ClinGen CA219570
- ClinVar RCV000059200
- ClinVar RCV002514299
- Pathogenic
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 1.00
- MetaLR 0.67
- MetaSVM 0.45
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (Neurofibromatosis, type 1)
- EBI: Pathogenic (in NF1)
- UniProt: Pathogenic (in NF1)
- Structural context available
- Cited in: Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in… (PMID 15060124)
- Cited in: A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE).… (PMID 10220149)