T5R (p.Thr5Arg) variant of RET (P07949)
T5R (p.Thr5Arg) 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 0.62 / 1. The record also includes published literature and structural context.
T5R (p.Thr5Arg) variant details
- p.Thr5Arg
- rs1444096302
- ClinGen CA376768022
- ClinVar RCV001042075
- gnomAD rs1444096302
- Uncertain significance
- Multiple endocrine neoplasia, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- AlphaMissense 0.22
- MetaLR 0.84
- MetaSVM 0.21
- PolyPhen-2 0.01
- SIFT 0.13
- MutPred 0.20
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)