K70E (p.Lys70Glu) variant of ABCG5 (Q9H222)
K70E (p.Lys70Glu) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
K70E (p.Lys70Glu) variant details
- p.Lys70Glu
- TOPMed rs1668382922
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 23.30
- PolyPhen-2 0.39
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available