p.Ala18 Thr19del variant of EPCAM (P16422)
p.Ala18 Thr19del in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala18 Thr19del variant details
- rs878854490
- gnomAD 2-47369548-GCGGCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 12.40
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available