D18G (p.Asp18Gly) variant of NF1 (Neurofibromin)
D18G (p.Asp18Gly) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D18G (p.Asp18Gly) variant details
- p.Asp18Gly
- rs2143145636
- ClinGen CA398979403
- ClinVar RCV002347248
- Ensembl rs2143145636
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.14
- MetaLR 0.06
- MetaSVM -1.14
- CADD 25.10
- PolyPhen-2 0.72
- SIFT 0.02
- 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)