A22S (p.Ala22Ser) variant of EPCAM (P16422)
A22S (p.Ala22Ser) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- rs2103738227
- ClinGen CA346721456
- ClinVar RCV003204065
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.08
- MetaLR 0.32
- MetaSVM -0.79
- CADD 10.50
- PolyPhen-2 0.01
- SIFT 0.74
- 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)