S53T (p.Ser53Thr) variant of TSC1 (Hamartin)
S53T (p.Ser53Thr) 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 syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
S53T (p.Ser53Thr) variant details
- p.Ser53Thr
- rs1588359592
- ClinGen CA375375131
- ClinVar RCV003176665
- ClinVar RCV004009631
- Uncertain significance
- Tuberous sclerosis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- AlphaMissense 0.06
- MetaLR 0.16
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.10
- ClinVar: Uncertain significance (Tuberous sclerosis syndrome; Hereditary cancer-predisposing synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)