A3A (p.Ala3Ala) variant of NF1 (Neurofibromin)
A3A (p.Ala3Ala) in NF1 (Neurofibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- gnomAD 17-31095318-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 17.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available