Q8H (p.Gln8His) variant of BEST1 (Bestrophin-1)
Q8H (p.Gln8His) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Q8H (p.Gln8His) variant details
- p.Gln8His
- gnomAD 11-61951830-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.59
- CADD 16.60
- PolyPhen-2 0.69
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available