S18P (p.Ser18Pro) variant of BEST1 (Bestrophin-1)
S18P (p.Ser18Pro) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S18P (p.Ser18Pro) variant details
- p.Ser18Pro
- ExAC rs755109384
- gnomAD rs755109384
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.86
- CADD 21.50
- PolyPhen-2 0.84
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available