Q27Q (p.Gln27Gln) variant of NF1 (Neurofibromin)
Q27Q (p.Gln27Gln) in NF1 (Neurofibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q27Q (p.Gln27Gln) variant details
- p.Gln27Gln
- rs1597625846
- gnomAD 17-31156003-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 3.99
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available
- Literature evidence available