S30C (p.Ser30Cys) variant of TSC2 (Tuberin)
S30C (p.Ser30Cys) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S30C (p.Ser30Cys) variant details
- p.Ser30Cys
- rs1425163522
- ClinGen CA394301392
- ClinVar RCV000699032
- ClinVar RCV002256480
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.04
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.08
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)