A2A (p.Ala2Ala) variant of TSC2 (Tuberin)
A2A (p.Ala2Ala) in TSC2 (Tuberin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs745578322
- gnomAD 16-2048603-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0866
- CADD 0.84
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available