P28A (p.Pro28Ala) variant of TSC2 (Tuberin)
P28A (p.Pro28Ala) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P28A (p.Pro28Ala) variant details
- p.Pro28Ala
- rs200480606
- ClinGen CA394301314
- ClinVar RCV003512992
- 1000Genomes rs200480606
- Uncertain significance
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- AlphaMissense 0.06
- MetaLR 0.12
- MetaSVM -1.01
- PolyPhen-2 0.17
- SIFT 1.00
- MutPred 0.28
- ClinVar: Uncertain significance (Tuberous sclerosis 2)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)