L16A (p.Leu16Ala) variant of RET (P07949)
L16A (p.Leu16Ala) in RET (P07949) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
L16A (p.Leu16Ala) variant details
- p.Leu16Ala
- rs2491935478
- ClinGen CA2580081462
- ClinVar RCV002342361
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)