S32T (p.Ser32Thr) variant of ABCG8 (Q9H221)
S32T (p.Ser32Thr) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S32T (p.Ser32Thr) variant details
- p.Ser32Thr
- gnomAD 2-43844538-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.25
- MetaLR 0.34
- MetaSVM -0.81
- CADD 9.71
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available