I38G (p.Ile38Gly) variant of BEST1 (Bestrophin-1)
I38G (p.Ile38Gly) in BEST1 (Bestrophin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
I38G (p.Ile38Gly) variant details
- p.Ile38Gly
- gnomAD 11-61951915-T-TTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 17.70
- Population evidence available
- Structural context available
- Literature evidence available