K14R (p.Lys14Arg) variant of TSC2 (Tuberin)
K14R (p.Lys14Arg) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K14R (p.Lys14Arg) variant details
- p.Lys14Arg
- rs1263108967
- ClinGen CA394300893
- ClinVar RCV001901149
- ClinVar RCV002256862
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.52
- CADD 25.40
- PolyPhen-2 0.95
- SIFT 0.17
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)