L19Q (p.Leu19Gln) variant of TSC1 (Hamartin)
L19Q (p.Leu19Gln) in TSC1 (Hamartin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L19Q (p.Leu19Gln) variant details
- p.Leu19Gln
- Ensembl rs1564504977
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.79
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available