H59R (p.His59Arg) variant of ABCC9 (O60706)
H59R (p.His59Arg) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
H59R (p.His59Arg) variant details
- p.His59Arg
- gnomAD rs1423323542
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.84
- CADD 23.50
- PolyPhen-2 0.79
- SIFT 0.17
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available