I3V (p.Ile3Val) variant of BEST1 (Bestrophin-1)
I3V (p.Ile3Val) in BEST1 (Bestrophin-1) is a missense 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.
I3V (p.Ile3Val) variant details
- p.Ile3Val
- gnomAD 11-61951813-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.41
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available