D3V (p.Asp3Val) variant of ABCG5 (Q9H222)
D3V (p.Asp3Val) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D3V (p.Asp3Val) variant details
- p.Asp3Val
- 1000Genomes rs575118638
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- CADD 16.00
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available