G34C (p.Gly34Cys) variant of BEST1 (Bestrophin-1)
G34C (p.Gly34Cys) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G34C (p.Gly34Cys) variant details
- p.Gly34Cys
- gnomAD 11-61951906-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.46
- CADD 19.70
- PolyPhen-2 0.04
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available