S891A (p.Ser891Ala) variant of RET (P07949)
S891A (p.Ser891Ala) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Medullary thyroid carcinoma; Multiple endocrine neoplasia II; Familial medullary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
S891A (p.Ser891Ala) variant details
- p.Ser891Ala
- rs75234356
- ClinGen CA008989
- cosmic curated COSV10441
- ClinVar RCV000014978
- Likely benign
- Medullary thyroid carcinoma; Multiple endocrine neoplasia II; Familial medullary
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.73
- CADD 26.80
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Likely benign (Multiple endocrine neoplasia, type 2)
- EBI: Pathogenic (in MTC)
- UniProt: Pathogenic (in MTC)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid… (PMID 14602786)
- Cited in: Pheochromocytoma and medullary thyroid carcinoma: a new genotype-phenotype correlation of the RET protooncogene 891… (PMID 15292360)