A23A (p.Ala23Ala) variant of EPCAM (P16422)
A23A (p.Ala23Ala) in EPCAM (P16422) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A23A (p.Ala23Ala) variant details
- p.Ala23Ala
- rs1400073696
- gnomAD 2-47369159-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 6.88
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Literature evidence available