E8V (p.Glu8Val) variant of NF1 (Neurofibromin)
E8V (p.Glu8Val) in NF1 (Neurofibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E8V (p.Glu8Val) variant details
- p.Glu8Val
- gnomAD 17-31095332-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.18
- MetaLR 0.08
- MetaSVM -1.12
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available