K127* (p.Lys127Ter) variant of ABCC6 (O95255)
K127* (p.Lys127Ter) in ABCC6 (O95255) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
K127* (p.Lys127Ter) variant details
- p.Lys127Ter
- 1000Genomes rs2049008560
- gnomAD rs2049008560
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 36.00
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available