E56A (p.Glu56Ala) variant of BEST1 (Bestrophin-1)
E56A (p.Glu56Ala) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E56A (p.Glu56Ala) variant details
- p.Glu56Ala
- TOPMed rs1285188919
- gnomAD rs1285188919
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.50
- CADD 14.10
- PolyPhen-2 0.20
- SIFT 0.08
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available