A23S (p.Ala23Ser) variant of EPCAM (P16422)
A23S (p.Ala23Ser) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- rs766549830
- gnomAD 2-47369157-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0895
- CADD 1.25
- Most common in the Ashkenazi Jewish population (allele frequency 0.019)
- Structural context available
- Literature evidence available