A26T (p.Ala26Thr) variant of RET (P07949)
A26T (p.Ala26Thr) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.36 / 1. The record also includes published literature and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- rs1554817350
- ClinGen CA376770035
- ClinVar RCV002740314
- ClinVar RCV004656972
- Uncertain significance
- Multiple endocrine neoplasia, type 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- AlphaMissense 0.05
- MetaLR 0.23
- MetaSVM -0.94
- PolyPhen-2 0.00
- SIFT 0.62
- EVE 0.24
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 2; Hereditary cancer-predispo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)