V26M (p.Val26Met) variant of ABCC9 (O60706)
V26M (p.Val26Met) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
V26M (p.Val26Met) variant details
- p.Val26Met
- ExAC rs754476885
- gnomAD rs754476885
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.70
- CADD 24.90
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available