K12N (p.Lys12Asn) variant of TSC2 (Tuberin)
K12N (p.Lys12Asn) 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 0.69 / 1. The record also includes published literature and structural context.
K12N (p.Lys12Asn) variant details
- p.Lys12Asn
- rs1596233951
- ClinGen CA394300841
- cosmic curated COSV10957
- NCI-TCGA Cosmic COSV9952
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- AlphaMissense 0.89
- MetaLR 0.78
- MetaSVM 0.65
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.43
- EBI: Likely benign
- UniProt: Likely benign
- 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)