E34D (p.Glu34Asp) variant of ABCG5 (Q9H222)
E34D (p.Glu34Asp) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E34D (p.Glu34Asp) variant details
- p.Glu34Asp
- gnomAD rs1295215814
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- CADD 8.40
- PolyPhen-2 0.04
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available