L56R (p.Leu56Arg) variant of ABCC4 (O15439)
L56R (p.Leu56Arg) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
L56R (p.Leu56Arg) variant details
- p.Leu56Arg
- gnomAD rs1254069714
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- CADD 25.10
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)