Q58Q (p.Gln58Gln) variant of BEST1 (Bestrophin-1)
Q58Q (p.Gln58Gln) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q58Q (p.Gln58Gln) variant details
- p.Gln58Gln
- gnomAD 11-61955128-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 15.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available