A2A (p.Ala2Ala) variant of EPCAM (P16422)
A2A (p.Ala2Ala) in EPCAM (P16422) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs374563131
- gnomAD 2-47369511-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.437
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available