R16S (p.Arg16Ser) variant of NF1 (Neurofibromin)
R16S (p.Arg16Ser) in NF1 (Neurofibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R16S (p.Arg16Ser) variant details
- p.Arg16Ser
- gnomAD 17-31095355-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.30
- MetaLR 0.11
- MetaSVM -0.98
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available