P24P (p.Pro24Pro) variant of TSC2 (Tuberin)
P24P (p.Pro24Pro) in TSC2 (Tuberin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P24P (p.Pro24Pro) variant details
- p.Pro24Pro
- rs754121475
- gnomAD 16-2048687-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 8.00
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available
- Literature evidence available