W64* (p.Trp64Ter) variant of ABCG5 (Q9H222)
W64* (p.Trp64Ter) in ABCG5 (Q9H222) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
W64* (p.Trp64Ter) variant details
- p.Trp64Ter
- cosmic curated COSV53213
- cosmic curated COSV53210
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available