S16C (p.Ser16Cys) variant of TSC1 (Hamartin)
S16C (p.Ser16Cys) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S16C (p.Ser16Cys) variant details
- p.Ser16Cys
- rs774900322
- ClinGen CA037571
- NCI-TCGA Cosmic COSV5376
- cosmic curated COSV53766
- Uncertain significance
- Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.64
- AlphaMissense 0.38
- MetaLR 0.85
- MetaSVM 0.86
- CADD 24.80
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)