R16P (p.Arg16Pro) variant of NF1 (Neurofibromin)
R16P (p.Arg16Pro) 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 0.41 / 1. The record also includes published literature and structural context.
R16P (p.Arg16Pro) variant details
- p.Arg16Pro
- rs1555594493
- ClinGen CA398979374
- ClinVar RCV001212851
- ClinVar RCV002316643
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 1.00
- MetaLR 0.10
- MetaSVM -1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)