P24Q (p.Pro24Gln) variant of TSC2 (Tuberin)
P24Q (p.Pro24Gln) 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 0.41 / 1. The record also includes published literature and structural context.
P24Q (p.Pro24Gln) variant details
- p.Pro24Gln
- rs868467487
- ClinGen CA394301209
- ClinVar RCV001348642
- 1000Genomes rs868467487
- Uncertain significance
- 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
- 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)