Q28E (p.Gln28Glu) variant of NF1 (Neurofibromin)
Q28E (p.Gln28Glu) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Q28E (p.Gln28Glu) variant details
- p.Gln28Glu
- ExAC rs771764281
- gnomAD rs771764281
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.17
- AlphaMissense 0.11
- MetaLR 0.03
- MetaSVM -1.09
- CADD 17.70
- PolyPhen-2 0.39
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available