P4H (p.Pro4His) variant of EPCAM (P16422)
P4H (p.Pro4His) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P4H (p.Pro4His) variant details
- p.Pro4His
- rs925555268
- gnomAD 2-47369146-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.14
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available