V8G (p.Val8Gly) variant of ABCG2 (Q9UNQ0)
V8G (p.Val8Gly) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V8G (p.Val8Gly) variant details
- p.Val8Gly
- ESP rs149877053
- ExAC rs149877053
- TOPMed rs149877053
- gnomAD rs149877053
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.36
- CADD 20.90
- PolyPhen-2 0.27
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available