G14E (p.Gly14Glu) variant of ABCG8 (Q9H221)
G14E (p.Gly14Glu) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
G14E (p.Gly14Glu) variant details
- p.Gly14Glu
- ExAC rs773804452
- gnomAD rs773804452
- Missense
- Variant Prioritization Score for Impact Estimate 0.0915
- REVEL 0.10
- CADD 0.17
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available