S6N (p.Ser6Asn) variant of TSC2 (Tuberin)
S6N (p.Ser6Asn) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S6N (p.Ser6Asn) variant details
- p.Ser6Asn
- rs758239066
- ClinGen CA033570
- ClinVar RCV000213113
- ClinVar RCV000537615
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.15
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.12
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)