D18G (p.Asp18Gly) variant of ABCC8 (Q09428)
D18G (p.Asp18Gly) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D18G (p.Asp18Gly) variant details
- p.Asp18Gly
- TOPMed rs1848806669
- gnomAD rs1848806669
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.44
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available