L12M (p.Leu12Met) variant of EPCAM (P16422)
L12M (p.Leu12Met) 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 0.35 / 1. The record also includes population frequency data and structural context.
L12M (p.Leu12Met) variant details
- p.Leu12Met
- rs746990000
- ClinGen CA335959
- ClinVar RCV005055717
- ExAC rs746990000
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.35
- MetaLR 0.53
- MetaSVM -0.35
- CADD 21.80
- PolyPhen-2 0.64
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available