R37G (p.Arg37Gly) variant of TSC1 (Hamartin)
R37G (p.Arg37Gly) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 1. 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.
R37G (p.Arg37Gly) variant details
- p.Arg37Gly
- gnomAD rs1309560054
- Uncertain significance
- Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.93
- CADD 29.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Tuberous sclerosis 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available