I45S (p.Ile45Ser) variant of BEST1 (Bestrophin-1)
I45S (p.Ile45Ser) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
I45S (p.Ile45Ser) variant details
- p.Ile45Ser
- gnomAD 11-61951940-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.35
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available