Y43C (p.Tyr43Cys) variant of BEST1 (Bestrophin-1)
Y43C (p.Tyr43Cys) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Y43C (p.Tyr43Cys) variant details
- p.Tyr43Cys
- gnomAD 11-61951934-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.96
- CADD 21.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available