E8K (p.Glu8Lys) variant of NF1 (Neurofibromin)
E8K (p.Glu8Lys) in NF1 (Neurofibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- gnomAD 17-31095331-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.17
- MetaLR 0.07
- MetaSVM -1.13
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available