P1453L (p.Pro1453Leu) variant of TSC2 (Tuberin)
P1453L (p.Pro1453Leu) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P1453L (p.Pro1453Leu) variant details
- p.Pro1453Leu
- rs748182471
- ClinGen CA050977
- ClinVar RCV002332311
- ClinVar RCV003102573
- Conflicting interpretations
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.49
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 5.8e-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)