A22Q (p.Ala22Gln) variant of EPCAM (P16422)
A22Q (p.Ala22Gln) in EPCAM (P16422) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A22Q (p.Ala22Gln) variant details
- p.Ala22Gln
- gnomAD 2-47369568-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available