I912L (p.Ile912Leu) variant of TSC2 (Tuberin)
I912L (p.Ile912Leu) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
I912L (p.Ile912Leu) variant details
- p.Ile912Leu
- rs748461293
- ClinGen CA394279594
- ClinVar RCV003466462
- Uncertain significance
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 1.00
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.91
- ClinVar: Uncertain significance (Tuberous sclerosis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available