S30P (p.Ser30Pro) variant of TSC2 (Tuberin)
S30P (p.Ser30Pro) in TSC2 (Tuberin) is a missense 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.
S30P (p.Ser30Pro) variant details
- p.Ser30Pro
- gnomAD 16-2048703-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.25
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available