K66E (p.Lys66Glu) variant of ABCC4 (O15439)
K66E (p.Lys66Glu) 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.
K66E (p.Lys66Glu) variant details
- p.Lys66Glu
- TOPMed rs1458725696
- gnomAD rs1458725696
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 19.20
- Most common in the African/African-American population (allele frequency 4.8e-05)