C23C (p.Cys23Cys) variant of BEST1 (Bestrophin-1)
C23C (p.Cys23Cys) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
C23C (p.Cys23Cys) variant details
- p.Cys23Cys
- rs1465486114
- gnomAD 11-61951875-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 21.20
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available