S78T (p.Ser78Thr) variant of ABCG5 (Q9H222)
S78T (p.Ser78Thr) 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.
S78T (p.Ser78Thr) variant details
- p.Ser78Thr
- TOPMed rs1257853786
- gnomAD rs1257853786
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 24.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available