P6Q (p.Pro6Gln) variant of NF1 (Neurofibromin)
P6Q (p.Pro6Gln) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P6Q (p.Pro6Gln) variant details
- p.Pro6Gln
- rs864622210
- ClinGen CA398979222
- ClinVar RCV002407869
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.20
- MetaLR 0.20
- MetaSVM -0.71
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.01
- 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)