G1277D (p.Gly1277Asp) variant of NF1 (Neurofibromin)
G1277D (p.Gly1277Asp) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hereditary cancer-predisposing syndrome; Neurofibromat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G1277D (p.Gly1277Asp) variant details
- p.Gly1277Asp
- rs1555615480
- ClinGen CA398992767
- cosmic curated COSV62216
- ClinVar RCV002599392
- Uncertain significance
- Cardiovascular phenotype; Hereditary cancer-predisposing syndrome; Neurofibromat
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.76
- AlphaMissense 0.97
- MetaLR 0.76
- MetaSVM 0.45
- CADD 27.30
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hereditary cancer-predisposing syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)