L66P (p.Leu66Pro) variant of ABCC8 (Q09428)
L66P (p.Leu66Pro) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
L66P (p.Leu66Pro) variant details
- p.Leu66Pro
- TOPMed rs1295972947
- gnomAD rs1295972947
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.96
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available