P56S (p.Pro56Ser) variant of TSC1 (Hamartin)
P56S (p.Pro56Ser) 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; Isolated focal co. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P56S (p.Pro56Ser) variant details
- p.Pro56Ser
- rs1330089369
- ClinGen CA375375112
- ClinVar RCV000558142
- ClinVar RCV002404457
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1; Isolated focal co
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.38
- CADD 17.80
- PolyPhen-2 0.07
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1; I)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)