S53N (p.Ser53Asn) variant of TSC1 (Hamartin)
S53N (p.Ser53Asn) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
S53N (p.Ser53Asn) variant details
- p.Ser53Asn
- rs1588359592
- ClinGen CA375375132
- ClinVar RCV000816230
- ClinVar RCV005749649
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1
- 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: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1)
- 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)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)