E19D (p.Glu19Asp) variant of NF1 (Neurofibromin)
E19D (p.Glu19Asp) in NF1 (Neurofibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- Ensembl rs2143145786
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.08
- MetaLR 0.04
- MetaSVM -1.08
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available