R12H (p.Arg12His) variant of RET (P07949)
R12H (p.Arg12His) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R12H (p.Arg12His) variant details
- p.Arg12His
- rs2132498277
- ClinGen CA376768060
- ClinVar RCV002014081
- Ensembl rs2132498277
- Uncertain significance
- Multiple endocrine neoplasia, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.23
- MetaLR 0.79
- MetaSVM 0.29
- CADD 21.10
- PolyPhen-2 0.07
- SIFT 0.37
- 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)