G10E (p.Gly10Glu) variant of ABCG8 (Q9H221)
G10E (p.Gly10Glu) 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.
G10E (p.Gly10Glu) variant details
- p.Gly10Glu
- gnomAD 2-43839082-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.08
- MetaLR 0.28
- MetaSVM -0.84
- CADD 3.76
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)
- Structural context available
- Literature evidence available