P4S (p.Pro4Ser) variant of TSC2 (Tuberin)
P4S (p.Pro4Ser) 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; Tuberous sclerosis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- rs2150969834
- ClinGen CA394300537
- ClinVar RCV003627530
- ClinVar RCV004005912
- Uncertain significance
- Tuberous sclerosis 2; Tuberous sclerosis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- AlphaMissense 0.09
- MetaLR 0.75
- MetaSVM 0.45
- PolyPhen-2 1.00
- SIFT 0.10
- MutPred 0.21
- ClinVar: Uncertain significance (Tuberous sclerosis 2; Tuberous sclerosis syndrome)
- 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)