P3S (p.Pro3Ser) variant of EPCAM (P16422)
P3S (p.Pro3Ser) in EPCAM (P16422) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P3S (p.Pro3Ser) variant details
- p.Pro3Ser
- rs587780772
- ClinGen CA332800
- ClinVar RCV005055592
- ExAC rs587780772
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.06
- MetaLR 0.20
- MetaSVM -0.96
- CADD 14.10
- PolyPhen-2 0.06
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available