P28P (p.Pro28Pro) variant of TSC2 (Tuberin)
P28P (p.Pro28Pro) in TSC2 (Tuberin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P28P (p.Pro28Pro) variant details
- p.Pro28Pro
- rs2150972083
- gnomAD 16-2048699-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 13.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available