A2S (p.Ala2Ser) variant of ABCG8 (Q9H221)
A2S (p.Ala2Ser) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 2-43839057-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.26
- MetaLR 0.47
- MetaSVM -0.36
- CADD 14.80
- PolyPhen-2 0.24
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available