A2A (p.Ala2Ala) variant of NF1 (Neurofibromin)
A2A (p.Ala2Ala) in NF1 (Neurofibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- gnomAD 17-31095315-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 19.30
- Population evidence available
- Structural context available
- Literature evidence available