S16F (p.Ser16Phe) variant of TSC1 (Hamartin)
S16F (p.Ser16Phe) 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; Tuberous sclerosis 1; Tuberous sclerosi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
S16F (p.Ser16Phe) variant details
- p.Ser16Phe
- rs774900322
- ClinGen CA375375375
- ClinVar RCV000642044
- ClinVar RCV001023078
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1; Tuberous sclerosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- AlphaMissense 0.38
- MetaLR 0.85
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1; T)
- 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)