R29S (p.Arg29Ser) variant of TSC2 (Tuberin)
R29S (p.Arg29Ser) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R29S (p.Arg29Ser) variant details
- p.Arg29Ser
- rs1010489256
- ClinGen CA394301358
- ClinVar RCV001313020
- ClinVar RCV006287386
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.22
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.08
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)