V8A (p.Val8Ala) variant of ABCG2 (Q9UNQ0)
V8A (p.Val8Ala) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- ESP rs149877053
- ExAC rs149877053
- TOPMed rs149877053
- gnomAD rs149877053
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.24
- CADD 19.30
- PolyPhen-2 0.08
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available