L16Q (p.Leu16Gln) variant of RET (P07949)
L16Q (p.Leu16Gln) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hirschsprung disease, susceptibility to, 1; not provided; Hereditary cancer-pred. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L16Q (p.Leu16Gln) variant details
- p.Leu16Gln
- rs1564480893
- ClinGen CA376768082
- ClinVar RCV000694092
- ClinVar RCV003163176
- Uncertain significance
- Hirschsprung disease, susceptibility to, 1; not provided; Hereditary cancer-pred
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.43
- MetaLR 0.91
- MetaSVM 0.68
- CADD 23.60
- PolyPhen-2 0.14
- SIFT 0.36
- ClinVar: Uncertain significance (Hirschsprung disease, susceptibility to, 1; not provided; Heredi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- 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)
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)