A134E (p.Ala134Glu) variant of ABCC4 (O15439)
A134E (p.Ala134Glu) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
A134E (p.Ala134Glu) variant details
- p.Ala134Glu
- TOPMed rs929768802
- gnomAD rs929768802
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- CADD 23.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)