Q270P (p.Gln270Pro) variant of NF1 (Neurofibromin)
Q270P (p.Gln270Pro) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurofibromatosis, type 1; Cardiovascular phenotype; Hereditary cancer-predispos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
Q270P (p.Gln270Pro) variant details
- p.Gln270Pro
- rs1597659939
- ClinGen CA398990935
- ClinVar RCV003172309
- ClinVar RCV003318752
- Likely pathogenic
- Neurofibromatosis, type 1; Cardiovascular phenotype; Hereditary cancer-predispos
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- AlphaMissense 0.97
- MetaLR 0.69
- MetaSVM 0.53
- PolyPhen-2 0.91
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (Neurofibromatosis, type 1; Cardiovascular phenotype; Hereditary)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)