P24L (p.Pro24Leu) variant of TSC2 (Tuberin)
P24L (p.Pro24Leu) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- rs868467487
- ClinGen CA276768594
- ClinVar RCV001205363
- ClinVar RCV003163556
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.08
- AlphaMissense 0.09
- MetaLR 0.34
- MetaSVM -0.64
- CADD 22.90
- PolyPhen-2 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- 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)