R5W (p.Arg5Trp) variant of NF1 (Neurofibromin)
R5W (p.Arg5Trp) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R5W (p.Arg5Trp) variant details
- p.Arg5Trp
- rs1598173775
- ClinGen CA398979203
- ClinVar RCV002319146
- Ensembl rs1598173775
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.09
- MetaLR 0.02
- MetaSVM -0.97
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.00
- 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)