G26V (p.Gly26Val) variant of BEST1 (Bestrophin-1)
G26V (p.Gly26Val) 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.
G26V (p.Gly26Val) variant details
- p.Gly26Val
- gnomAD 11-61951883-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.99
- CADD 22.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available