P28R (p.Pro28Arg) variant of TSC2 (Tuberin)
P28R (p.Pro28Arg) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Isolated focal cortical dysplasia type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
P28R (p.Pro28Arg) variant details
- p.Pro28Arg
- rs1057522105
- ClinVar RCV004573790
- TOPMed rs1057522105
- gnomAD rs1057522105
- Uncertain significance
- Isolated focal cortical dysplasia type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- AlphaMissense 0.16
- MetaLR 0.29
- MetaSVM -0.64
- PolyPhen-2 0.78
- SIFT 0.18
- MutPred 0.32
- ClinVar: Uncertain significance (Isolated focal cortical dysplasia type II)
- EBI: Benign
- UniProt: Benign
- Structural context available