E57D (p.Glu57Asp) variant of BEST1 (Bestrophin-1)
E57D (p.Glu57Asp) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E57D (p.Glu57Asp) variant details
- p.Glu57Asp
- rs200235532
- ClinGen CA6040708
- ClinVar RCV001897512
- ExAC rs200235532
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.37
- CADD 0.57
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available