V6I (p.Val6Ile) variant of EPCAM (P16422)
V6I (p.Val6Ile) in EPCAM (P16422) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V6I (p.Val6Ile) variant details
- p.Val6Ile
- rs867177667
- ClinGen CA16602239
- ClinVar RCV001092631
- TOPMed rs867177667
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.05
- MetaLR 0.29
- MetaSVM -0.87
- CADD 10.20
- PolyPhen-2 0.02
- SIFT 0.43
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available