V17E (p.Val17Glu) variant of ABCG5 (Q9H222)
V17E (p.Val17Glu) in ABCG5 (Q9H222) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
V17E (p.Val17Glu) variant details
- p.Val17Glu
- 1000Genomes rs72542427
- ESP rs72542427
- ExAC rs72542427
- TOPMed rs72542427
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0604
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.45
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available