V56I (p.Val56Ile) variant of ABCC9 (O60706)
V56I (p.Val56Ile) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
V56I (p.Val56Ile) variant details
- p.Val56Ile
- gnomAD rs749597050
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.57
- CADD 24.70
- PolyPhen-2 0.73
- SIFT 0.04
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available