A2E (p.Ala2Glu) variant of EPCAM (P16422)
A2E (p.Ala2Glu) in EPCAM (P16422) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- 1000Genomes rs201402370
- ESP rs201402370
- ExAC rs201402370
- TOPMed rs201402370
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.28
- MetaLR 0.42
- MetaSVM -0.68
- CADD 22.40
- PolyPhen-2 0.79
- SIFT 0.84
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available