E62K (p.Glu62Lys) variant of ABCG2 (Q9UNQ0)
E62K (p.Glu62Lys) 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.
E62K (p.Glu62Lys) variant details
- p.Glu62Lys
- ExAC rs745441428
- gnomAD rs745441428
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.19
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available