V72A (p.Val72Ala) variant of ABCG5 (Q9H222)
V72A (p.Val72Ala) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
V72A (p.Val72Ala) variant details
- p.Val72Ala
- ExAC rs749017748
- TOPMed rs749017748
- gnomAD rs749017748
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 23.00
- PolyPhen-2 0.28
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available