D18Y (p.Asp18Tyr) variant of NF1 (Neurofibromin)
D18Y (p.Asp18Tyr) in NF1 (Neurofibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D18Y (p.Asp18Tyr) variant details
- p.Asp18Tyr
- gnomAD 17-31095361-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.22
- MetaLR 0.07
- MetaSVM -1.10
- CADD 27.80
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available