P4A (p.Pro4Ala) variant of EPCAM (P16422)
P4A (p.Pro4Ala) 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 and structural context.
P4A (p.Pro4Ala) variant details
- p.Pro4Ala
- TOPMed rs1252339742
- gnomAD rs1252339742
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.17
- MetaLR 0.39
- MetaSVM -0.72
- CADD 8.23
- PolyPhen-2 0.05
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available