A6S (p.Ala6Ser) variant of ABCG8 (Q9H221)
A6S (p.Ala6Ser) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- gnomAD 2-43839069-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.15
- MetaLR 0.28
- MetaSVM -0.77
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available