P56L (p.Pro56Leu) variant of TSC1 (Hamartin)
P56L (p.Pro56Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P56L (p.Pro56Leu) variant details
- p.Pro56Leu
- rs750512029
- ClinGen CA029375
- cosmic curated COSV10732
- ClinVar RCV000444035
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.38
- CADD 19.30
- PolyPhen-2 0.02
- SIFT 0.51
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1; n)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)