E7K (p.Glu7Lys) variant of ABCG8 (Q9H221)
E7K (p.Glu7Lys) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- gnomAD rs1244979430
- Missense
- Variant Prioritization Score for Impact Estimate 0.0925
- REVEL 0.11
- CADD 0.90
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available