P26S (p.Pro26Ser) variant of TSC2 (Tuberin)
P26S (p.Pro26Ser) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P26S (p.Pro26Ser) variant details
- p.Pro26Ser
- rs2150971861
- ClinGen CA394301253
- ClinVar RCV003513103
- Uncertain significance
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- CADD 6.07
- ClinVar: Uncertain significance (Tuberous sclerosis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- 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)