L40I (p.Leu40Ile) variant of ABCC8 (Q09428)
L40I (p.Leu40Ile) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L40I (p.Leu40Ile) variant details
- p.Leu40Ile
- gnomAD rs1462117805
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.55
- CADD 23.50
- PolyPhen-2 0.31
- SIFT 0.14
- Population evidence available
- Structural context available