S41T (p.Ser41Thr) variant of ABCG8 (Q9H221)
S41T (p.Ser41Thr) in ABCG8 (Q9H221) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S41T (p.Ser41Thr) variant details
- p.Ser41Thr
- ExAC rs772660192
- TOPMed rs772660192
- gnomAD rs772660192
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.27
- CADD 21.40
- PolyPhen-2 0.04
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available