E50K (p.Glu50Lys) variant of ABCC4 (O15439)
E50K (p.Glu50Lys) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- ExAC rs776893694
- TOPMed rs776893694
- gnomAD rs776893694
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 18.70
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the South Asian population (allele frequency 0.00021)