P78L (p.Pro78Leu) variant of ABCC4 (O15439)
P78L (p.Pro78Leu) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data.
P78L (p.Pro78Leu) variant details
- p.Pro78Leu
- ESP rs368599747
- ExAC rs368599747
- TOPMed rs368599747
- gnomAD rs368599747
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 0.0001)