G10R (p.Gly10Arg) variant of EPCAM (P16422)
G10R (p.Gly10Arg) 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; Lynch syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- rs863224709
- ClinGen CA337386
- ClinVar RCV005055715
- TOPMed rs863224709
- Uncertain significance
- not provided; Lynch syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- CADD 8.89
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Lynch syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)