S23T (p.Ser23Thr) variant of ABCG5 (Q9H222)
S23T (p.Ser23Thr) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S23T (p.Ser23Thr) variant details
- p.Ser23Thr
- TOPMed rs1668435574
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- CADD 8.52
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available