S6A (p.Ser6Ala) variant of RET (P07949)
S6A (p.Ser6Ala) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Multiple endocrine neoplasia, type 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
S6A (p.Ser6Ala) variant details
- p.Ser6Ala
- rs1588848475
- ClinGen CA376768026
- ClinVar RCV000811238
- ClinVar RCV005712272
- Conflicting interpretations
- Multiple endocrine neoplasia, type 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- AlphaMissense 0.05
- MetaLR 0.83
- MetaSVM 0.07
- PolyPhen-2 0.00
- SIFT 0.97
- MutPred 0.15
- ClinVar: Conflicting classifications of pathogenicity (Multiple endocrine neoplasia, type 2; Hereditary cancer-predispo)
- EBI: Likely benign
- UniProt: Likely benign
- 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)