R12C (p.Arg12Cys) variant of RET (P07949)
R12C (p.Arg12Cys) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R12C (p.Arg12Cys) variant details
- p.Arg12Cys
- rs2132498232
- ClinGen CA376768058
- ClinVar RCV003646040
- Ensembl rs2132498232
- Uncertain significance
- Multiple endocrine neoplasia, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.38
- MetaLR 0.79
- MetaSVM 0.32
- CADD 22.60
- PolyPhen-2 0.10
- SIFT 0.16
- 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)