K70T (p.Lys70Thr) variant of ABCG5 (Q9H222)
K70T (p.Lys70Thr) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
K70T (p.Lys70Thr) variant details
- p.Lys70Thr
- gnomAD rs1668382783
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 23.60
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available