G26C (p.Gly26Cys) variant of BEST1 (Bestrophin-1)
G26C (p.Gly26Cys) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G26C (p.Gly26Cys) variant details
- p.Gly26Cys
- gnomAD 11-61951882-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.98
- CADD 22.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available