Q28P (p.Gln28Pro) variant of NF1 (Neurofibromin)
Q28P (p.Gln28Pro) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q28P (p.Gln28Pro) variant details
- p.Gln28Pro
- rs587782686
- ClinGen CA169288
- ClinVar RCV000132116
- ClinVar RCV000203778
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.35
- MetaLR 0.06
- MetaSVM -1.16
- CADD 23.90
- PolyPhen-2 0.85
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-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)