C6R (p.Cys6Arg) variant of ABCC8 (Q09428)
C6R (p.Cys6Arg) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
C6R (p.Cys6Arg) variant details
- p.Cys6Arg
- gnomAD rs1848810190
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available