p.Pro22 Ile23insPheLeu variant of NF1 (Neurofibromin)
p.Pro22 Ile23insPheLeu in NF1 (Neurofibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro22 Ile23insPheLeu variant details
- gnomAD 17-31155987-C-CTT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.719
- CADD 18.80
- Population evidence available
- Structural context available
- Literature evidence available