G10V (p.Gly10Val) variant of RET (P07949)
G10V (p.Gly10Val) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G10V (p.Gly10Val) variant details
- p.Gly10Val
- rs1303812507
- ClinGen CA376768052
- ClinVar RCV001205118
- ClinVar RCV005268942
- Uncertain significance
- Multiple endocrine neoplasia, type 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.57
- MetaLR 0.95
- MetaSVM 1.01
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.26
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 2; Hereditary cancer-predispo)
- 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)