P24T (p.Pro24Thr) variant of TSC2 (Tuberin)
P24T (p.Pro24Thr) 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 0.30 / 1. The record also includes published literature and structural context.
P24T (p.Pro24Thr) variant details
- p.Pro24Thr
- rs1567380585
- ClinGen CA394301207
- ClinVar RCV000690087
- ClinVar RCV004768565
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- AlphaMissense 0.06
- MetaLR 0.08
- MetaSVM -0.85
- PolyPhen-2 0.00
- SIFT 0.14
- EVE 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)