P4T (p.Pro4Thr) variant of EPCAM (P16422)
P4T (p.Pro4Thr) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P4T (p.Pro4Thr) variant details
- p.Pro4Thr
- gnomAD 2-47369121-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 1.94
- Population evidence available
- Structural context available
- Literature evidence available