K24E (p.Lys24Glu) variant of RET (P07949)
K24E (p.Lys24Glu) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
K24E (p.Lys24Glu) variant details
- p.Lys24Glu
- rs1263923038
- ClinGen CA376768124
- ClinVar RCV002367339
- gnomAD rs1263923038
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.17
- MetaLR 0.70
- MetaSVM -0.06
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)