D18E (p.Asp18Glu) variant of NF1 (Neurofibromin)
D18E (p.Asp18Glu) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D18E (p.Asp18Glu) variant details
- p.Asp18Glu
- TOPMed rs1598173882
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.14
- MetaLR 0.02
- MetaSVM -0.91
- CADD 19.70
- PolyPhen-2 0.04
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available