P4L (p.Pro4Leu) variant of TSC2 (Tuberin)
P4L (p.Pro4Leu) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- rs147206318
- ClinGen CA028755
- ClinVar RCV000815336
- ClinVar RCV002345865
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.43
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.51
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)