D25G (p.Asp25Gly) variant of ABCG8 (Q9H221)
D25G (p.Asp25Gly) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
D25G (p.Asp25Gly) variant details
- p.Asp25Gly
- gnomAD 2-43844517-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.43
- MetaLR 0.72
- MetaSVM 0.56
- CADD 29.30
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available