S8G (p.Ser8Gly) variant of ABCC8 (Q09428)
S8G (p.Ser8Gly) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S8G (p.Ser8Gly) variant details
- p.Ser8Gly
- TOPMed rs1848809505
- gnomAD rs1848809505
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.20
- CADD 22.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available