L19F (p.Leu19Phe) variant of TSC2 (Tuberin)
L19F (p.Leu19Phe) in TSC2 (Tuberin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- gnomAD rs1223300370
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.07
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available