I3N (p.Ile3Asn) variant of BEST1 (Bestrophin-1)
I3N (p.Ile3Asn) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
I3N (p.Ile3Asn) variant details
- p.Ile3Asn
- rs907161461
- ClinGen CA222931095
- ClinVar RCV002025569
- TOPMed rs907161461
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 0.81
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Population evidence available
- Structural context available