D18D (p.Asp18Asp) variant of NF1 (Neurofibromin)
D18D (p.Asp18Asp) in NF1 (Neurofibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D18D (p.Asp18Asp) variant details
- p.Asp18Asp
- rs1598173882
- gnomAD 17-31095363-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 20.20
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available
- Literature evidence available