P3R (p.Pro3Arg) variant of ABCC4 (O15439)
P3R (p.Pro3Arg) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
P3R (p.Pro3Arg) variant details
- p.Pro3Arg
- ExAC rs777538351
- TOPMed rs777538351
- gnomAD rs777538351
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 21.90
- PolyPhen-2 0.39
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)