S649L (p.Ser649Leu) variant of RET (P07949)
S649L (p.Ser649Leu) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S649L (p.Ser649Leu) variant details
- p.Ser649Leu
- rs148935214
- ClinGen CA008470
- cosmic curated COSV60687
- ClinVar RCV000121978
- Likely pathogenic
- Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyro
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.76
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.10
- ClinVar: Likely pathogenic (Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)