A8G (p.Ala8Gly) variant of EPCAM (P16422)
A8G (p.Ala8Gly) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A8G (p.Ala8Gly) variant details
- p.Ala8Gly
- rs1274512381
- ClinGen CA346721342
- ClinVar RCV002450243
- TOPMed rs1274512381
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.11
- MetaLR 0.37
- MetaSVM -0.67
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.64
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.6e-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)