P3L (p.Pro3Leu) variant of ABCC4 (O15439)
P3L (p.Pro3Leu) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- ExAC rs777538351
- TOPMed rs777538351
- gnomAD rs777538351
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 22.30
- PolyPhen-2 0.39
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)