Q20R (p.Gln20Arg) variant of NF1 (Neurofibromin)
Q20R (p.Gln20Arg) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q20R (p.Gln20Arg) variant details
- p.Gln20Arg
- rs1598173901
- ClinGen CA398979437
- ClinVar RCV001372203
- ClinVar RCV003169912
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.11
- AlphaMissense 0.58
- MetaLR 0.03
- MetaSVM -1.08
- CADD 24.40
- PolyPhen-2 0.13
- 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)