P39R (p.Pro39Arg) variant of TSC1 (Hamartin)
P39R (p.Pro39Arg) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome; Isolated focal co. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P39R (p.Pro39Arg) variant details
- p.Pro39Arg
- rs770831962
- ClinGen CA027217
- ClinVar RCV000817725
- ClinVar RCV004569733
- Conflicting interpretations
- Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome; Isolated focal co
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.61
- AlphaMissense 0.28
- MetaLR 0.79
- MetaSVM 0.71
- CADD 28.00
- PolyPhen-2 0.58
- ClinVar: Conflicting classifications of pathogenicity (Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome; I)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)