S891L (p.Ser891Leu) variant of RET (P07949)
S891L (p.Ser891Leu) 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 record also includes structural context.
S891L (p.Ser891Leu) variant details
- p.Ser891Leu
- NCI-TCGA Cosmic COSV6068
- cosmic curated COSV60686
- Ensembl rs2132961864
- Likely pathogenic
- Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyro
- Missense
- ClinVar: Likely pathogenic (Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial)
- EBI: Likely pathogenic (in MTC)
- UniProt: Likely pathogenic (in MTC)
- Structural context available