G23S (p.Gly23Ser) variant of RET (P07949)
G23S (p.Gly23Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G23S (p.Gly23Ser) variant details
- p.Gly23Ser
- rs1198827347
- ClinGen CA376768116
- ClinVar RCV004017068
- Uncertain significance
- Multiple endocrine neoplasia, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.16
- MetaLR 0.87
- MetaSVM 0.61
- CADD 20.40
- PolyPhen-2 0.04
- SIFT 0.77
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)