C144R (p.Cys144Arg) variant of ABCC4 (O15439)
C144R (p.Cys144Arg) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
C144R (p.Cys144Arg) variant details
- p.Cys144Arg
- ExAC rs772768710
- gnomAD rs772768710
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 24.40
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)