G26R (p.Gly26Arg) variant of NF1 (Neurofibromin)
G26R (p.Gly26Arg) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G26R (p.Gly26Arg) variant details
- p.Gly26Arg
- rs778973022
- ExAC rs778973022
- gnomAD rs778973022
- ClinGen CA8485475
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.15
- MetaLR 0.05
- MetaSVM -1.09
- CADD 24.00
- PolyPhen-2 0.17
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)