D19E (p.Asp19Glu) variant of ABCG8 (Q9H221)
D19E (p.Asp19Glu) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
D19E (p.Asp19Glu) variant details
- p.Asp19Glu
- gnomAD 2-43839110-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.14
- MetaLR 0.30
- MetaSVM -0.86
- CADD 7.38
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available