Q20K (p.Gln20Lys) variant of NF1 (Neurofibromin)
Q20K (p.Gln20Lys) in NF1 (Neurofibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q20K (p.Gln20Lys) variant details
- p.Gln20Lys
- gnomAD 17-31095367-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.13
- MetaLR 0.04
- MetaSVM -1.08
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available