R37L (p.Arg37Leu) variant of TSC1 (Hamartin)
R37L (p.Arg37Leu) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
R37L (p.Arg37Leu) variant details
- p.Arg37Leu
- NCI-TCGA Cosmic COSV5377
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.93
- CADD 28.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available