I40S (p.Ile40Ser) variant of ABCC9 (O60706)
I40S (p.Ile40Ser) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
I40S (p.Ile40Ser) variant details
- p.Ile40Ser
- gnomAD rs1262119008
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.78
- CADD 26.90
- PolyPhen-2 0.60
- SIFT 0.00
- Population evidence available
- Structural context available