P4S (p.Pro4Ser) variant of EPCAM (P16422)
P4S (p.Pro4Ser) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- TOPMed rs1252339742
- gnomAD rs1252339742
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.19
- MetaLR 0.43
- MetaSVM -0.64
- CADD 11.70
- PolyPhen-2 0.18
- SIFT 0.64
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available