P39A (p.Pro39Ala) variant of TSC1 (Hamartin)
P39A (p.Pro39Ala) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P39A (p.Pro39Ala) variant details
- p.Pro39Ala
- rs1588359851
- ClinGen CA375375225
- ClinVar RCV000807843
- ClinVar RCV004028633
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.37
- CADD 21.10
- PolyPhen-2 0.26
- SIFT 0.09
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)