R167* (p.Arg167Ter) variant of ABCC4 (O15439)
R167* (p.Arg167Ter) in ABCC4 (O15439) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
R167* (p.Arg167Ter) variant details
- p.Arg167Ter
- cosmic curated COSV65309
- ExAC rs529536678
- TOPMed rs529536678
- gnomAD rs529536678
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 31.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)