V26A (p.Val26Ala) variant of ABCC9 (O60706)
V26A (p.Val26Ala) 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.
V26A (p.Val26Ala) variant details
- p.Val26Ala
- ExAC rs748812668
- gnomAD rs748812668
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.81
- CADD 25.60
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the HGDP:BIAKA population (allele frequency 0.18)
- Structural context available