K106E (p.Lys106Glu) variant of ABCC4 (O15439)
K106E (p.Lys106Glu) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
K106E (p.Lys106Glu) variant details
- p.Lys106Glu
- ExAC rs778835635
- gnomAD rs778835635
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 22.80
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)