E19E (p.Glu19Glu) variant of NF1 (Neurofibromin)
E19E (p.Glu19Glu) in NF1 (Neurofibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E19E (p.Glu19Glu) variant details
- p.Glu19Glu
- gnomAD 17-31095366-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 20.50
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available