S601R (p.Ser601Arg) variant of TSC2 (Tuberin)
S601R (p.Ser601Arg) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S601R (p.Ser601Arg) variant details
- p.Ser601Arg
- rs1044401463
- ClinGen CA394272954
- ClinVar RCV003511548
- TOPMed rs1044401463
- Likely pathogenic
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.52
- CADD 0.61
- PolyPhen-2 0.02
- SIFT 0.52
- ClinVar: Likely pathogenic (Tuberous sclerosis 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-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)