R16C (p.Arg16Cys) variant of NF1 (Neurofibromin)
R16C (p.Arg16Cys) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R16C (p.Arg16Cys) variant details
- p.Arg16Cys
- rs1057520334
- ClinGen CA16607554
- ClinVar RCV000435513
- ClinVar RCV000632423
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.34
- AlphaMissense 0.94
- MetaLR 0.11
- MetaSVM -0.98
- CADD 29.90
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)