Q58H (p.Gln58His) variant of BEST1 (Bestrophin-1)
Q58H (p.Gln58His) in BEST1 (Bestrophin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q58H (p.Gln58His) variant details
- p.Gln58His
- rs672601356
- gnomAD 11-61955124-A-AAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.209
- CADD 8.64
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available