Q24R (p.Gln24Arg) variant of EPCAM (P16422)
Q24R (p.Gln24Arg) in EPCAM (P16422) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- rs763055107
- ClinGen CA1648811
- ClinVar RCV003172252
- ExAC rs763055107
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.08
- MetaLR 0.30
- MetaSVM -0.84
- CADD 17.00
- PolyPhen-2 0.02
- SIFT 0.13
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)