I150L (p.Ile150Leu) variant of ABCC4 (O15439)
I150L (p.Ile150Leu) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
I150L (p.Ile150Leu) variant details
- p.Ile150Leu
- 1000Genomes rs199805372
- ExAC rs199805372
- TOPMed rs199805372
- gnomAD rs199805372
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- CADD 15.40
- PolyPhen-2 0.02
- SIFT 0.27
- Most common in the South Asian population (allele frequency 1.2e-05)