W54* (p.Trp54Ter) variant of ABCG5 (Q9H222)
W54* (p.Trp54Ter) in ABCG5 (Q9H222) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
W54* (p.Trp54Ter) variant details
- p.Trp54Ter
- gnomAD rs1371222213
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.883
- CADD 40.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available