A31A (p.Ala31Ala) variant of TSC2 (Tuberin)
A31A (p.Ala31Ala) in TSC2 (Tuberin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A31A (p.Ala31Ala) variant details
- p.Ala31Ala
- rs1596234316
- gnomAD 16-2048708-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.19
- CADD 13.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available