G26D (p.Gly26Asp) variant of BEST1 (Bestrophin-1)
G26D (p.Gly26Asp) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinal dystrophy; Vitelliform macular dystrophy 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G26D (p.Gly26Asp) variant details
- p.Gly26Asp
- rs748684128
- ClinGen CA380831533
- ClinVar RCV001074525
- ClinVar RCV003546612
- Conflicting interpretations
- Retinal dystrophy; Vitelliform macular dystrophy 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.99
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Retinal dystrophy; Vitelliform macular dystrophy 2; not provided)
- EBI: Likely pathogenic (in VMD2)
- UniProt: Likely pathogenic (in VMD2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available