S27S (p.Ser27Ser) variant of BEST1 (Bestrophin-1)
S27S (p.Ser27Ser) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S27S (p.Ser27Ser) variant details
- p.Ser27Ser
- gnomAD 11-61951887-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 21.60
- Population evidence available
- Structural context available
- Literature evidence available