Q11E (p.Gln11Glu) variant of NF1 (Neurofibromin)
Q11E (p.Gln11Glu) in NF1 (Neurofibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q11E (p.Gln11Glu) variant details
- p.Gln11Glu
- gnomAD 17-31095340-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.14
- CADD 20.40
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available