S54C (p.Ser54Cys) variant of TSC1 (Hamartin)
S54C (p.Ser54Cys) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S54C (p.Ser54Cys) variant details
- p.Ser54Cys
- rs1399121121
- ClinGen CA375375124
- ClinVar RCV003614402
- gnomAD rs1399121121
- Likely benign
- Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.75
- CADD 26.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely benign (Tuberous sclerosis 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)