P28S (p.Pro28Ser) variant of TSC2 (Tuberin)
P28S (p.Pro28Ser) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- rs200480606
- ClinGen CA056465
- ClinVar RCV003628591
- ClinVar RCV005301342
- Benign/Likely benign
- Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.01
- AlphaMissense 0.06
- MetaLR 0.12
- MetaSVM -1.01
- CADD 10.10
- PolyPhen-2 0.17
- ClinVar: Benign/Likely benign (Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 6e-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)