W141* (p.Trp141Ter) variant of ABCC9 (O60706)
W141* (p.Trp141Ter) in ABCC9 (O60706) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
W141* (p.Trp141Ter) variant details
- p.Trp141Ter
- TOPMed rs1170853573
- gnomAD rs1170853573
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.863
- CADD 38.00
- Most common in the HGDP:BIAKA population (allele frequency 0.18)
- Structural context available