G34D (p.Gly34Asp) variant of BEST1 (Bestrophin-1)
G34D (p.Gly34Asp) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G34D (p.Gly34Asp) variant details
- p.Gly34Asp
- gnomAD rs1192923897
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.70
- CADD 20.50
- PolyPhen-2 0.71
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available