Q19H (p.Gln19His) variant of ABCC8 (Q09428)
Q19H (p.Gln19His) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q19H (p.Gln19His) variant details
- p.Gln19His
- TOPMed rs1848806338
- gnomAD rs1848806338
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.22
- CADD 17.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available