S30A (p.Ser30Ala) variant of ABCG8 (Q9H221)
S30A (p.Ser30Ala) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S30A (p.Ser30Ala) variant details
- p.Ser30Ala
- gnomAD 2-43844531-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.26
- MetaLR 0.51
- MetaSVM -0.02
- CADD 20.10
- PolyPhen-2 0.37
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available