S6T (p.Ser6Thr) variant of TSC2 (Tuberin)
S6T (p.Ser6Thr) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S6T (p.Ser6Thr) variant details
- p.Ser6Thr
- rs758239066
- ClinGen CA394300582
- ClinVar RCV001969155
- ExAC rs758239066
- Benign
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.16
- CADD 21.20
- PolyPhen-2 0.05
- SIFT 0.07
- ClinVar: Benign (Tuberous sclerosis 2)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00021)
- 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)