A117G (p.Ala117Gly) variant of ABCC8 (Q09428)
A117G (p.Ala117Gly) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A117G (p.Ala117Gly) variant details
- p.Ala117Gly
- ExAC rs746836780
- gnomAD rs746836780
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.33
- CADD 22.20
- PolyPhen-2 0.03
- SIFT 0.32
- Population evidence available
- Structural context available