S48T (p.Ser48Thr) variant of ABCG5 (Q9H222)
S48T (p.Ser48Thr) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
S48T (p.Ser48Thr) variant details
- p.Ser48Thr
- TOPMed rs1668429557
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 25.90
- PolyPhen-2 0.41
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available