V14I (p.Val14Ile) variant of NF1 (Neurofibromin)
V14I (p.Val14Ile) in NF1 (Neurofibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V14I (p.Val14Ile) variant details
- p.Val14Ile
- gnomAD 17-31095349-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -0.94
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available