S53R (p.Ser53Arg) variant of TSC1 (Hamartin)
S53R (p.Ser53Arg) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, 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 0.41 / 1. The record also includes published literature and structural context.
S53R (p.Ser53Arg) variant details
- p.Ser53Arg
- rs756335238
- ExAC rs756335238
- gnomAD rs756335238
- ClinGen CA375375128
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- AlphaMissense 0.25
- MetaLR 0.40
- MetaSVM -0.53
- PolyPhen-2 0.00
- SIFT 0.01
- EVE 0.25
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)