V17L (p.Val17Leu) variant of ABCG5 (Q9H222)
V17L (p.Val17Leu) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
V17L (p.Val17Leu) variant details
- p.Val17Leu
- gnomAD rs1177967200
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 2.33
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available