K97E (p.Lys97Glu) variant of ABCG2 (Q9UNQ0)
K97E (p.Lys97Glu) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
K97E (p.Lys97Glu) variant details
- p.Lys97Glu
- gnomAD rs1316542758
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.66
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available