G34S (p.Gly34Ser) variant of BEST1 (Bestrophin-1)
G34S (p.Gly34Ser) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G34S (p.Gly34Ser) variant details
- p.Gly34Ser
- gnomAD rs1479800797
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.43
- CADD 20.50
- PolyPhen-2 0.05
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available