P24R (p.Pro24Arg) variant of TSC2 (Tuberin)
P24R (p.Pro24Arg) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
P24R (p.Pro24Arg) variant details
- p.Pro24Arg
- rs868467487
- ClinGen CA394301212
- ClinVar RCV003297169
- 1000Genomes rs868467487
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- AlphaMissense 0.09
- MetaLR 0.34
- MetaSVM -0.64
- PolyPhen-2 0.20
- SIFT 0.14
- EVE 0.37
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)