E26G (p.Glu26Gly) variant of ABCG5 (Q9H222)
E26G (p.Glu26Gly) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E26G (p.Glu26Gly) variant details
- p.Glu26Gly
- TOPMed rs1393088059
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available