I91V (p.Ile91Val) variant of ABCC9 (O60706)
I91V (p.Ile91Val) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I91V (p.Ile91Val) variant details
- p.Ile91Val
- TOPMed rs1290561675
- gnomAD rs1290561675
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.42
- CADD 21.60
- PolyPhen-2 0.27
- SIFT 0.13
- Most common in the HGDP:KALASH population (allele frequency 0.024)
- Structural context available