Q11K (p.Gln11Lys) variant of NF1 (Neurofibromin)
Q11K (p.Gln11Lys) 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.
Q11K (p.Gln11Lys) variant details
- p.Gln11Lys
- gnomAD 17-31095340-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.14
- CADD 20.70
- PolyPhen-2 0.28
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available