S6P (p.Ser6Pro) variant of RET (P07949)
S6P (p.Ser6Pro) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S6P (p.Ser6Pro) variant details
- p.Ser6Pro
- rs1588848475
- ClinGen CA376768025
- ClinVar RCV001309613
- ClinVar RCV004951495
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.17
- AlphaMissense 0.05
- MetaLR 0.83
- MetaSVM 0.07
- CADD 22.40
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)