A18E (p.Ala18Glu) variant of EPCAM (P16422)
A18E (p.Ala18Glu) in EPCAM (P16422) is a missense change. Clinical records from ClinVar 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 0.38 / 1. The record also includes population frequency data and structural context.
A18E (p.Ala18Glu) variant details
- p.Ala18Glu
- Ensembl rs2103738187
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.46
- MetaLR 0.43
- MetaSVM -0.60
- CADD 13.70
- PolyPhen-2 0.55
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available