H67R (p.His67Arg) variant of ABCC8 (Q09428)
H67R (p.His67Arg) in ABCC8 (Q09428) 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.
H67R (p.His67Arg) variant details
- p.His67Arg
- gnomAD rs1282285867
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.80
- CADD 23.50
- PolyPhen-2 0.23
- SIFT 0.57
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available