A12A (p.Ala12Ala) variant of NF1 (Neurofibromin)
A12A (p.Ala12Ala) in NF1 (Neurofibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- rs786203866
- gnomAD 17-31095345-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 20.30
- Population evidence available
- Structural context available
- Literature evidence available