P4P (p.Pro4Pro) variant of TSC2 (Tuberin)
P4P (p.Pro4Pro) in TSC2 (Tuberin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P4P (p.Pro4Pro) variant details
- p.Pro4Pro
- rs762387565
- gnomAD 16-2048627-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.31
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available