P26L (p.Pro26Leu) variant of TSC2 (Tuberin)
P26L (p.Pro26Leu) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs1555494636
- ClinGen CA394301263
- ClinVar RCV000520283
- ClinVar RCV000556475
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.19
- CADD 21.50
- PolyPhen-2 0.14
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-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)