L17P (p.Leu17Pro) variant of RET (P07949)
L17P (p.Leu17Pro) 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; Breast carcinoma; Family history of cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- rs1837066964
- ClinGen CA376768088
- ClinVar RCV001343082
- ClinVar RCV002245970
- Uncertain significance
- Multiple endocrine neoplasia, type 2; Breast carcinoma; Family history of cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.63
- MetaLR 0.96
- MetaSVM 1.05
- CADD 29.30
- PolyPhen-2 0.90
- SIFT 0.05
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 2; Breast carcinoma; Family h)
- 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)