I42V (p.Ile42Val) variant of ABCG2 (Q9UNQ0)
I42V (p.Ile42Val) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- ExAC rs777059441
- gnomAD rs777059441
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.37
- CADD 22.00
- PolyPhen-2 0.48
- SIFT 0.12
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available