p.Thr17 Ala23del variant of EPCAM (P16422)
p.Thr17 Ala23del in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
p.Thr17 Ala23del variant details
- rs864622092
- gnomAD 2-47369542-CTTGCC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.342
- CADD 16.40
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available