G34G (p.Gly34Gly) variant of BEST1 (Bestrophin-1)
G34G (p.Gly34Gly) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G34G (p.Gly34Gly) variant details
- p.Gly34Gly
- rs771898125
- gnomAD 11-61951908-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.222
- CADD 22.00
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Literature evidence available