G15D (p.Gly15Asp) variant of BEST1 (Bestrophin-1)
G15D (p.Gly15Asp) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
G15D (p.Gly15Asp) variant details
- p.Gly15Asp
- rs766379510
- ClinGen CA380831276
- ClinVar RCV000494235
- ClinVar RCV004816728
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- AlphaMissense 0.94
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.41
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available