S18S (p.Ser18Ser) variant of BEST1 (Bestrophin-1)
S18S (p.Ser18Ser) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S18S (p.Ser18Ser) variant details
- p.Ser18Ser
- gnomAD 11-61951860-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 14.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available