R16L (p.Arg16Leu) variant of NF1 (Neurofibromin)
R16L (p.Arg16Leu) in NF1 (Neurofibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R16L (p.Arg16Leu) variant details
- p.Arg16Leu
- gnomAD 17-31095356-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.32
- MetaLR 0.10
- MetaSVM -1.07
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available